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Online First / Early View
Online first articles are accepted and edited, peer reviewed articles that are not yet assigned to volumes/issues, but are citable using DOI.
Online First
Corrections/Errata June 19 2025
Erratum - A Patient with Organic Acidemia, Hyperammonemia, and a FBXL4 Variant Suggesting Mitochondrial DNA Depletion Syndrome
Mol Syndromol (2025) https://doi.org/10.1159/000546546
Case Reports May 20 2025
A New Family with X-Linked Intellectual Disability 90: A Case Report of a Novel DLG3 Variant and Literature Review
Mol Syndromol (2025) https://doi.org/10.1159/000546429
Research Articles May 20 2025
High Diagnostic Yield of Next-Generation Sequencing in Charcot-Marie-Tooth Patients and a Novel Variant in the NDRG1 Gene
Müşerref Başdemirci; Özgür Balasar; Onur Bulut; Ebru Tunçez; Fahrettin Duymuş; Büşra Eser Çavdartepe; Levent Şimşek; Halil Çelik
Mol Syndromol (2025) https://doi.org/10.1159/000546400
Case Reports April 17 2025
A Novel HECW2 Variant (c.4354G>A; p. Gly1452Ser) in a Chinese Patient with Developmental Delay, Neurodevelopmental Delay, and Hypotonia
Mol Syndromol (2025) https://doi.org/10.1159/000545680
Research Articles April 3 2025
5-Oxoprolinase Deficiency and Epilepsy: A Report of Four Cases with New Clinical Findings and Clinical Diversity Even in the Same Family
Burcu Koseci; Esra Kara; Ezgi Burgac; Irem Kaplan; Deniz Kor; Fatma Derya Bulut; Neslihan Ozcan; Neslihan Onenli Mungan
Mol Syndromol (2025) https://doi.org/10.1159/000545609
Brief Reports April 2 2025
A Novel GATAD2B Frameshift Variant Causes GATAD2B-Associated Neurodevelopmental Disorder with Camptodactyly
Cheryl Weiqi Tan; Jiin Ying Lim; Khadijah Rafi’ee; Jeannette Goh; Chew Thye Choong; Sing Ming Chao; Benjamin Chang; Saumya S. Jamuar; Ene-Choo Tan
Mol Syndromol (2025) https://doi.org/10.1159/000545445
Case Reports April 2 2025
Focal Dermal Hypoplasia with Unusual Cardiac Anomalies Presentation: A Report of Two Cases and Literature Review
Mol Syndromol (2025) https://doi.org/10.1159/000545533
Research Articles April 1 2025
Clinical and Genetic Spectrum of RYR1-Related Disease
Gamze Sarıkaya Uzan; Berk Özyılmaz; Gizem Doğan; Figen Baydan; Yiğithan Güzin; Pınar Gençpınar; Hande Gazeteci Tekin; Nihal Olgaç Dündar
Mol Syndromol (2025) https://doi.org/10.1159/000545612
Case Reports April 1 2025
A Patient with Organic Acidemia, Hyperammonemia, and a FBXL4 Variant Suggesting Mitochondrial DNA Depletion Syndrome
Mol Syndromol (2025) https://doi.org/10.1159/000545585
Case Reports March 28 2025
A Novel Homozygous Missense SCUBE3 Variant with Protein Modeling in a Patient Diagnosed as Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies 2
Burcu Yeter; Batın Ilgıt Sezgin; Yunus Emre Dilek; Yasemin Kendir Demirkol; Arzu Selamioğlu; Heves Kırmızıbekmez; Hande Kaymakçalan Çelebiler; Günseli Bayram Akçapınar
Mol Syndromol (2025) https://doi.org/10.1159/000545570
Case Reports March 28 2025
D-Bifunctional Protein Deficiency Type III: Two Turkish Cases and a Novel HSD17B4 Gene Variant
Mol Syndromol (2025) https://doi.org/10.1159/000545474
Case Reports March 25 2025
A Novel de novo Exceptional Complex Chromosomal Rearrangement Involving 5 Chromosomes Resulting in Neurodevelopmental Delay and Dysmorphism
Sabri Aynaci; Sinem Kocagil; Coşkun Yarar; Efsun Tosumoğlu; Ebru Erzurumluoğlu Gökalp; Mehmet Burak Mutlu; Sevilhan Artan
Mol Syndromol (2025) https://doi.org/10.1159/000545465
Case Reports March 25 2025
Clinical and Genetic Aspects of Verheij Syndrome in Two Cases
Mol Syndromol (2025) https://doi.org/10.1159/000545448
Research Articles March 24 2025
Genotype-Phenotype Analysis and New Clinical Findings in a Series of 24 Patients Presenting with Noonan Syndrome and Related Disorders
Bruna Miranda Corso; Luiza de Oliveira Simões; Karina Montemor Klegen de Oliveira; Ana Mondadori dos Santos; Luise Longo Angeloni; Ruy Pires de Oliveira Sobrinho; Vera Lúcia Gil-da-Silva-Lopes; Antonia Paula Marques-de-Faria; Andréa Trevas Maciel Guerra; Gil Guerra-Junior; Alexander Augusto de Lima Jorge; Elisângela Pereira de Souza Quedas; Henrique Garcia Silveira; Giovana Toccoli; Maria Isabel Melaragno; Rare Genomes Project Consortium; Mara Sanches Guaragna; Carlos Eduardo Steiner
Mol Syndromol (2025) https://doi.org/10.1159/000545410
Case Reports March 24 2025
A Novel PTCH1 Non-Canonical Splice Region Variant Associated with Gorlin Syndrome: A Case Report
Miriam J. Smith; Emily-Jayne Shell; George J. Burghel; Megan Carney; Sarah J. Waller; Alan Hakim; D. Gareth Evans
Mol Syndromol (2025) https://doi.org/10.1159/000545453
Research Articles March 24 2025
Dominant Dystrophic Epidermolysis Bullosa with COL7A1 Variant Confirmed by Whole-Exome Sequencing in a Chinese Family and Genotype-Phenotype Correlation Analysis
Xinyu Feng; Chunmeng Liu; Wanli Niu; Yi Hu; Qi Zhen; Weiwei Chen; Yirui Wang; Zhuo Li; Juan Du; Xiaofen Guo; Mingwei Lv; Yu Zhang; Yang Han; Liangdan Sun
Mol Syndromol (2025) https://doi.org/10.1159/000545348
Research Articles March 21 2025
Genetic Variations in BCL3, MDM4, KLF14, and miR-146a and Their Associations with the Predisposition and Progression of Myeloproliferative Disorder and Chronic Myeloid Leukemia Patients
Osama M. Al-Amer; Mohammed I. Alasseiri; Faris J. Tayeb; Mansour A. Alanazi; Abdullah Hamadi; Mohammed M. Jalal; Malik A. Altayar; Reema M. Almotairi; Hanan A. Niaz; Mamdoh Moawadh; Sael Alatawi; Waseem AlZamzami; Atif Abdulwahab A. Oyouni; Mohammed Alassiri; Fahad Alharthi; Hussam A. Althagafi; Mohammad A. Alanazi; Rashid Mir
Mol Syndromol (2025) https://doi.org/10.1159/000545352
Research Articles March 18 2025
Expanding the Genetic Landscape of RASopathies: Significance of Including NF1 in Targeted Panels
Mol Syndromol (2025) https://doi.org/10.1159/000545192
Case Reports March 3 2025
Meckel-Gruber Syndrome due to Homozygous c.16del (p.Leu6SerfsTer15) Variant in the TCTN1: First Case from Türkiye
Mol Syndromol (2025) https://doi.org/10.1159/000544931
Case Reports March 3 2025
A Family of LBR Biallelic Pathogenic Variants Resulting in Rhizomelic Skeletal Dysplasia with Pelger-Huët Anomaly
Mol Syndromol (2025) https://doi.org/10.1159/000544916
Case Reports February 27 2025
Cobalamin J Disorder in a Teenage Boy with Recurrent Abdominal Pain Attacks: A Case Report and Literature Review
Mol Syndromol (2025) https://doi.org/10.1159/000544821
Research Articles February 24 2025
A Novel Pathogenic TSPEAR Variant in a Family with Clinical Variability: Definition of Dental Anomalies and Review of the Literature
Akçahan Akalın; Nagihan Koç; Cansu Özşin-Özler; Beren Karaosmanoglu; Gizem Ürel-Demir; Ekim Z. Taskiran; Gulen Eda Utine; Meryem Uzamış-Tekçiçek; Pelin Özlem Şimşek-Kiper
Mol Syndromol (2025) https://doi.org/10.1159/000544806
Case Reports February 12 2025
Management of Neonatal Severe Hyperparathyroidism due to Homozygous CASR Mutation: Challenges and Literature Insights
Hasan Karakaş; Nihat Aksakal; Gürkan Tarçın; Ahsen Çolakoğlu; Mehmet Emre Bayram; Gökçe Velioğlu Haşlak; Mert Uçar; İlayda Altun; Dilek Bingöl Aydın; Hande Turan; Elvan Bayramoğlu; Olcay Evliyaoğlu
Mol Syndromol (2025) https://doi.org/10.1159/000543911
Case Reports February 3 2025
Concomitant Mosaic Turner Syndrome and Congenital Adrenal Hyperplasia in 1 of 3 Patients of USP9X Variant-Associated Autism Spectrum Disorder
Mol Syndromol (2025) https://doi.org/10.1159/000543957
Case Reports January 27 2025
A New Case of Nager Syndrome as a Rare Cause of Acrofacial Dysostosis
Mol Syndromol (2025) https://doi.org/10.1159/000543807
Case Reports January 27 2025
A Novel X-Linked Variant c.1772delG (p.G591fs*20) in IRS4 in Two Related Patients with Central Hypothyroidism
Mol Syndromol (2025) https://doi.org/10.1159/000543796
Research Articles January 21 2025
Chromosomal Microarray Analysis as a Diagnostic Tool in Congenital Heart Diseases
Mol Syndromol (2025) https://doi.org/10.1159/000543698
Research Articles January 3 2025
Gene Panel-Based Genotyping of 279 Turkish Maturity-Onset Diabetes of the Young Patients from Eastern Anatolia
Mol Syndromol (2025) https://doi.org/10.1159/000543282
Research Articles January 3 2025
Clinical and Molecular Findings in 17 Patients with Cornelia de Lange Syndrome: Four Novel Variants and an ANKRD11 Gene Variant
Mol Syndromol (2025) https://doi.org/10.1159/000543396
Case Reports January 3 2025
Out-of-Frame Transcript and in-Frame Deletion owing to a Novel Splice Mutation of COL2A1 (c.1266+2T>A) in an Adult with Kniest Dysplasia: A Case Report
Kenta Sawamura; Masaki Matsushita; Takaaki Okamoto; Kenichi Mishima; Hideaki Sawai; Hiroshi Kitoh; Shiro Imagama
Mol Syndromol (2025) https://doi.org/10.1159/000543379
Research Articles January 2 2025
Clinical and Molecular Evaluation of Beckwith-Wiedemann Syndrome with the BWSICS Score
Mol Syndromol (2025) https://doi.org/10.1159/000543374
Case Reports January 2 2025
Novel Insights Aortic Root Dilatation in an Individual with 3p21.31 Deletion
Mol Syndromol (2025) https://doi.org/10.1159/000543371
Research Articles January 2 2025
Ophthalmological and Orthoptic Findings in Down Syndrome: Is Genotype-Phenotype Correlation Possible?
Melisa Akgoz Koyuncuoglu; Hande Taylan Sekeroglu; Gizem Urel Demir; Ozlem Simsek Kiper; Jale Karakaya; Gulen Eda Utine
Mol Syndromol (2025) https://doi.org/10.1159/000543395
Case Reports December 30 2024
A TMEM260 Biallelic Deletion Underlies Truncus Arteriosus
Mol Syndromol (2024) https://doi.org/10.1159/000543316
Case Reports December 24 2024
Siblings with a Homozygous Variant in the NHP2 Gene: A Case Report and Review of Literature
İlknur Sürücü Kara; Duygu Duman; Güney Bademci; Zarife Kuloglu; Seda Kaynak Sahap; Mustafa Tekin; Fatma Tuba Eminoğlu
Mol Syndromol (2024) https://doi.org/10.1159/000543315
Case Reports December 21 2024
EpiSignature Utility for Variant of Uncertain Significance Reclassification in an Apparently Atypical Presentation of HNRNPU-Related Neurodevelopmental Disorder: A Case Report
Mol Syndromol (2024) https://doi.org/10.1159/000543302
Review Articles December 19 2024
Genetics of Mitochondrial Aminoacyl-tRNA Synthetases Associated with Sensorineural Hearing Loss
Mol Syndromol (2024) https://doi.org/10.1159/000542981
Research Articles December 14 2024
Novel PIBF1 Pathogenic Variant in Three Siblings with Joubert Syndrome Type 33
Busra Aynekin; Bahadır M. Samur; Ummu Gulsum Ozgul Gumus; Kaya Bilguvar; Ayten Gulec; Stephanie Efthymiou; Hakan Gumus; Ahmet Okay Caglayan; Huseyin Per
Mol Syndromol (2024) https://doi.org/10.1159/000543107
Research Articles December 12 2024
Findings in Chromosomal Microarray Analysis during Prenatal Diagnosis in High-Risk Individuals
Pilar Carrasco Salas; Reyes Granell Escobar; Ana Serrano Mira; Angustias Pérez Saldaña; Marta Cosculluela Vidal; Carlos Garrido; Ignacio Vázquez Rico
Mol Syndromol (2024) https://doi.org/10.1159/000543064
Case Reports December 10 2024
A Novel HERC2 Variant in Two Siblings with Autosomal Recessive Intellectual Developmental Disorder-38 and Cardiomyopathy
Mol Syndromol (2024) https://doi.org/10.1159/000543054
Case Reports December 9 2024
A Novel Premature Termination Codon Mutation in TRAPPC2 Is Associated with X-Linked Spondyloepiphyseal Dysplasia Tarda
Deniz Yasar; Naz Güleray Lafcı; Gülin Karacan Küçükali; Aslıhan Araslı Yılmaz; Beyhan Özkaya Dönmez; Burak Tahir Yazar; Berna Uçan; İclal Okur; Behiye Sarıkaya Özdemir; Erdal Kurnaz; Melikşah Keskin; Şenay Savaş Erdeve
Mol Syndromol (2024) https://doi.org/10.1159/000543039
Research Articles November 29 2024
C.655C>T Variant of Sepiapterin Reductase Deficiency: Genetic and Bioinformatic Analysis
Mol Syndromol (2024) https://doi.org/10.1159/000542176
Case Reports November 28 2024
Co-Occurrence of Variants in 3 Genes in a Patient with Congenital Skeletal Dysplasia and Cardiac Anomalies: Diagnostic Challenge Posed by a Blended Phenotype
Pratibha Nair; Sami Bizzari; Cybel Mehawej; Eliane Chouery; Perla Audi; Sandra Corbani; Rima Korban; Daniel Mahfoud; Andrea Superti-Furga; Stepahny El-Hayek; Andre Megarbane
Mol Syndromol (2024) https://doi.org/10.1159/000542345
Case Reports November 27 2024
A Report of Dual Presentations of Pseudo-TORCH Syndrome 1 and MCC2 Deficiency and Review of the Literature
Ali Talea; Shiva Bayat; Golazin Shahbodagh Khan; Neda Pak; Solmaz Aziz-Ahari; Roya Sinaei; Ali Reza Tavasoli; Mahmoud Reza Ashrafi; Morteza Heidari
Mol Syndromol (2024) https://doi.org/10.1159/000542145
Case Reports November 26 2024
Homozygous PGAP2 Mutation Causes Hyperphosphatasia with Mental Retardation Syndrome-3: Genetic and Clinical Evaluation of the Ultra-Rare Inherited Glycosylphosphatidylinositol Biosynthesis Defect
Aynur Küçükçongar Yavaş; Sümeyra Zeynep Özbey; Bora Ergin; Yasemin Ünal; Berrak Bilginer Gürbüz; Betül Karaatmaca; Hamit Özyürek; Ofcan Oflaz; Hacer Basan; Çiğdem Seher Kasapkara
Mol Syndromol (2024) https://doi.org/10.1159/000542617
Research Articles November 19 2024
Genotype-Phenotype Correlation in Lipoid Proteinosis: 15 Cases from Turkiye
Firdevs Dinçsoy Bir; Zehra Oya Uyguner; Birsen Karaman; Can Baykal; Nesimi Büyükbabani; Beyhan Tüysüz; Asuman Gedikbaşı; Bülent Uyanık; Güven Toksoy; Bülent Kara; Hülya Kayserili
Mol Syndromol (2024) https://doi.org/10.1159/000542675
Research Articles November 13 2024
Next-Generation Sequencing in Diagnosis of Monogenic Cholestatic Liver Disorders: A Single-Center Experience
Engin Demir; Fatma Derya Bulut; Berrak Bilginer-Gürbüz; Mehmet Ercüment Döğen; Ali İşlek; Serdar Mermer; Burak Başer; Gizem Ürel-Demir
Mol Syndromol (2024) https://doi.org/10.1159/000542594
Early View
Research Articles June 12 2025
Identification of the genetic causes of inherited diseases in a North African biobank: implications for genetic diagnosis
Majida Charif; Saida Lhousni; Ayad Ghanam; Maria Rkain; Noufissa Benajiba; Rim Amrani; Abdeladim Babakhouya; Sahar Messaoudi; Aziza Elouali; Anass Ayyad; Abdeljaouad Najib; Omar El Mahi; Adnane Benzirar; Mehdi Moutaouekkil; Sanae Allaoui; Mohammed Benahmed; Manal Elidrissi Errahhali; Mounia Elidrissi Errahhali; Aymane Bouzidi; Meryem Ouarzane; Antony T. Vincent; Adnane Sellam; Guy Lenaers; Redouane Boulouiz; Mohammed Bellaoui
Mol Syndromol (2025) https://doi.org/10.1159/000546908
Research Articles June 10 2025
HIRA, NKX2-5 and GATA4 alterations versus cardiac malformations related to 22q11.2 deletion syndrome.
Bruna Lixinski Diniz; Desirée Deconte; Ana Kalise Böttcher; Rafaela Mergener; Bruna Baierle Guaraná; Natasha Malgarezi de Moraes; Rafael Fabiano Machado Rosa; Paulo Ricardo Gazzola Zen
Mol Syndromol (2025) https://doi.org/10.1159/000546625
Case Reports June 3 2025
Pamidronate Treatment of a patient with Opsismodysplasia and a novel INPPL1 variant – Efficacy, Mechanism and Clinical Outcomes
Mol Syndromol (2025) https://doi.org/10.1159/000546324
Research Articles May 30 2025
Targeted Clinical Analysis of PTPN11, SOS1, and NRAS Mutations and Associated Cardiac, Auditory, and Ophthalmologic Findings in Noonan Syndrome Patients
Mol Syndromol (2025) https://doi.org/10.1159/000546683
Case Reports May 28 2025
A Novel SON Gene Variant Associated with Rare Clinical Features in ZTTK Syndrome: A Case Report and Literature Review
Mol Syndromol (2025) https://doi.org/10.1159/000546621
Research Articles May 20 2025
Abnormal PAR1/2 number can influence effector T cell subsets in Turner syndrome
Ai Miyakoshi; Sumiko Sueyoshi; Akifumi Ijuin; Haru Hamada; Mayuko Nishi; Shiori Tochihara; Marina Saito; Hiroe Ueno; Michi Kasai; Shin Saito; Ryoko Asano; Taichi Mizushima; Etsuko Miyagi; Mariko Murase; Miki Tanoshima; Hideya Sakakibara; Tomonari Hayama
Mol Syndromol (2025) https://doi.org/10.1159/000546378
