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Journal Articles

A novel HECW2 variant (c.4354G>A; p. Gly1452Ser) in Chinese patient with developmental delay, neurodevelopmental delay and hypotonia

Subject Area:
Genetics
Lan Zeng, Jing Nie, Shuyao Zhu, Jin Wang, Yi Deng, Hui Zhu, Xueyan Wang, Na Xi
Journal: Molecular Syndromology
Mol Syndromol (2025)
https://doi.org/10.1159/000545680
Published Online: 17 April 2025
View articletitled, A novel HECW2 variant (c.4354G>A; p. Gly1452Ser) in Chinese patient with developmental delay, neurodevelopmental delay and hypotonia
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Journal Articles

Focal Dermal Hypoplasia with Unusual Cardiac Anomalies Presentation: Report of Two Cases and Literature Review

Subject Area:
Genetics
Nagehan Bilgeç, Mahmut Gökdemir, Özgür Balasar, Fayize Maden Bedel, Hüseyin Çaksen
Journal: Molecular Syndromology
Mol Syndromol (2025)
https://doi.org/10.1159/000545533
Published Online: 02 April 2025
View articletitled, Focal Dermal Hypoplasia with Unusual Cardiac Anomalies Presentation: Report of Two Cases and Literature Review
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Journal Articles

A Patient with Organic Acidemia, Hyperammonemia and a FBXL4 Variant Suggesting Mitochondrial DNA Depletion Syndrome

Subject Area:
Genetics
Merve Keser, Büşra Demirci, Habibe Koç Uçar, Özlem Akgün, İlknur Arslan, Berrak Bilginer Gürbüz
Journal: Molecular Syndromology
Mol Syndromol (2025)
https://doi.org/10.1159/000545585
Published Online: 01 April 2025
View articletitled, A Patient with Organic Acidemia, Hyperammonemia and a FBXL4 Variant Suggesting Mitochondrial DNA Depletion Syndrome
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Journal Articles

D-bifunctional protein deficiency type III: Two Turkish cases and a novel HSD17B4 gene variant

Subject Area:
Genetics
Ayşenur Engin Erdal, Berrak Bilginer Gürbüz, Aynur Küçükçongar Yavaş, Çiğdem Seher Kasapkara
Journal: Molecular Syndromology
Mol Syndromol (2025)
https://doi.org/10.1159/000545474
Published Online: 28 March 2025
View articletitled, D-bifunctional protein deficiency type III: Two Turkish cases and a novel HSD17B4 gene variant
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Journal Articles

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

Subject Area:
Genetics
Burcu Yeter, Batın Ilgıt Sezgin, Yunus Emre Dilek, Yasemin Kendir Demirkol, Arzu Selamioğlu, Heves Kırmızıbekmez, Hande Kaymakçalan Çelebiler, Günseli Bayram Akçapınar
Journal: Molecular Syndromology
Mol Syndromol (2025)
https://doi.org/10.1159/000545570
Published Online: 28 March 2025
View articletitled, 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
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Journal Articles

Clinical and Genetic Aspects of Verheij Syndrome in Two Cases

Subject Area:
Genetics
Yade Dilay Kursat, Hazal Sezginer Guler, Drenushe Zhuri, Hakan Gurkan, Sinem Yalcintepe
Journal: Molecular Syndromology
Mol Syndromol (2025)
https://doi.org/10.1159/000545448
Published Online: 25 March 2025
View articletitled, Clinical and Genetic Aspects of Verheij Syndrome in Two Cases
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Journal Articles

A Novel de novo Exceptional Complex Chromosomal Rearrangement Involving 5 Chromosomes Resulting in Neurodevelopmental Delay and Dysmorphism

Subject Area:
Genetics
Sabri Aynaci, Sinem Kocagil, Coşkun Yarar, Efsun Tosumoğlu, Ebru Erzurumluoğlu Gökalp, Mehmet Burak Mutlu, Sevilhan Artan
Journal: Molecular Syndromology
Mol Syndromol (2025)
https://doi.org/10.1159/000545465
Published Online: 25 March 2025
View articletitled, A Novel de novo Exceptional Complex Chromosomal Rearrangement Involving 5 Chromosomes Resulting in Neurodevelopmental Delay and Dysmorphism
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Journal Articles

A Novel PTCH1 Non-Canonical Splice Region Variant Associated with Gorlin Syndrome: A Case Report

Subject Area:
Genetics
Miriam J. Smith, Emily-Jayne Shell, George J. Burghel, Megan Carney, Sarah J. Waller, Alan Hakim, D. Gareth Evans
Journal: Molecular Syndromology
Mol Syndromol (2025)
https://doi.org/10.1159/000545453
Published Online: 24 March 2025
View articletitled, A Novel PTCH1 Non-Canonical Splice Region Variant Associated with Gorlin Syndrome: A Case Report
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Journal Articles

Clinical Characterization and Cytogenetic-Molecular Study of a Patient with a Ring Chromosome 12

Subject Area:
Genetics
Vinícius Almeida da Nóbrega, Gabriella Rodrigues dos Santos, Maria Isabel Melaragno, Rayana Elias Maia
Journal: Molecular Syndromology
Mol Syndromol (2025)
https://doi.org/10.1159/000545023
Published Online: 20 March 2025
View articletitled, Clinical Characterization and Cytogenetic-Molecular Study of a Patient with a Ring Chromosome 12
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Journal Articles

A Family of LBR Biallelic Pathogenic Variants Resulting in Rhizomelic Skeletal Dysplasia with Pelger-Huët Anomaly

Subject Area:
Genetics
Esra Dirimtekin, Çekdar Kapazan, Barış Yılmaz, Ahmet Mert Yanık, Bilgen Bilge Geckinli
Journal: Molecular Syndromology
Mol Syndromol (2025)
https://doi.org/10.1159/000544916
Published Online: 03 March 2025
View articletitled, A Family of LBR Biallelic Pathogenic Variants Resulting in Rhizomelic Skeletal Dysplasia with Pelger-Huët Anomaly
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Journal Articles

Meckel-Gruber Syndrome due to Homozygous c.16del (p.Leu6SerfsTer15) Variant in the TCTN1 : First Case from Türkiye

Subject Area:
Genetics
Leyla Turan, Ezgi Gökpınar İli, Mustafa Doğan, Hakan Erenel, Alper Gezdirici
Journal: Molecular Syndromology
Mol Syndromol (2025)
https://doi.org/10.1159/000544931
Published Online: 03 March 2025
View articletitled, Meckel-Gruber Syndrome due to Homozygous c.16del (p.Leu6SerfsTer15) Variant in the TCTN1 : First Case from Türkiye
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Journal Articles

Cobalamin J Disorder in a Teenage Boy with Recurrent Abdominal Pain Attacks: A Case Report and Literature Review

Subject Area:
Genetics
Deniz Aslan, Eyyup Uctepe, Ahmet Yesilyurt, Fatma Nisa Esen, Buket Dalgıç
Journal: Molecular Syndromology
Mol Syndromol (2025)
https://doi.org/10.1159/000544821
Published Online: 27 February 2025
View articletitled, Cobalamin J Disorder in a Teenage Boy with Recurrent Abdominal Pain Attacks: A Case Report and Literature Review
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Journal Articles

Management of Neonatal Severe Hyperparathyroidism due to Homozygous CASR Mutation: Challenges and Literature Insights

Subject Area:
Genetics
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
Journal: Molecular Syndromology
Mol Syndromol (2025)
https://doi.org/10.1159/000543911
Published Online: 12 February 2025
View articletitled, Management of Neonatal Severe Hyperparathyroidism due to Homozygous CASR Mutation: Challenges and Literature Insights
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Journal Articles

Concomitant Mosaic Turner Syndrome and Congenital Adrenal Hyperplasia in 1 of 3 Patients of USP9X Variant-Associated Autism Spectrum Disorder

Subject Area:
Genetics
Ahmet Güleç, Hamide Betul Gerik-Celebi, Meliha Demiral
Journal: Molecular Syndromology
Mol Syndromol (2025)
https://doi.org/10.1159/000543957
Published Online: 03 February 2025
View articletitled, Concomitant Mosaic Turner Syndrome and Congenital Adrenal Hyperplasia in 1 of 3 Patients of USP9X Variant-Associated Autism Spectrum Disorder
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Journal Articles

A New Case of Nager Syndrome as a Rare Cause of Acrofacial Dysostosis

Subject Area:
Genetics
Ozge Aglamis Senel, Esra Kilic
Journal: Molecular Syndromology
Mol Syndromol (2025)
https://doi.org/10.1159/000543807
Published Online: 27 January 2025
View articletitled, A New Case of Nager Syndrome as a Rare Cause of Acrofacial Dysostosis
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Journal Articles

A Novel X-Linked Variant c.1772delG (p.G591fs*20) in IRS4 in Two Related Patients with Central Hypothyroidism

Subject Area:
Genetics
Özge Köprülü, Hilmi Tozkır
Journal: Molecular Syndromology
Mol Syndromol (2025)
https://doi.org/10.1159/000543796
Published Online: 27 January 2025
View articletitled, A Novel X-Linked Variant c.1772delG (p.G591fs*20) in IRS4 in Two Related Patients with Central Hypothyroidism
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Journal Articles

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

Subject Area:
Genetics
Kenta Sawamura, Masaki Matsushita, Takaaki Okamoto, Kenichi Mishima, Hideaki Sawai, Hiroshi Kitoh, Shiro Imagama
Journal: Molecular Syndromology
Mol Syndromol (2025)
https://doi.org/10.1159/000543379
Published Online: 03 January 2025
View articletitled, 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
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Journal Articles

Novel Insights Aortic Root Dilatation in an Individual with 3p21.31 Deletion

Subject Area:
Genetics
David Zocche, Lucy Platts, Maha Younes, Andrew Flemming, Nitha Naqvi, Jan Cobben, Fleur Van Dijk
Journal: Molecular Syndromology
Mol Syndromol (2025)
https://doi.org/10.1159/000543371
Published Online: 02 January 2025
View articletitled, Novel Insights Aortic Root Dilatation in an Individual with 3p21.31 Deletion
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Journal Articles

A TMEM260 Biallelic Deletion Underlies Truncus Arteriosus

Subject Area:
Genetics
Yumi Enomoto, Takuya Naruto, Jun Mitsui, Hideaki Ueda, Kenji Kurosawa
Journal: Molecular Syndromology
Mol Syndromol (2024)
https://doi.org/10.1159/000543316
Published Online: 30 December 2024
View articletitled, A TMEM260 Biallelic Deletion Underlies Truncus Arteriosus
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Journal Articles

Siblings with a Homozygous Variant in the NHP2 Gene: A Case Report and Review of Literature

Subject Area:
Genetics
İlknur Sürücü Kara, Duygu Duman, Güney Bademci, Mustafa Tekin, Fatma Tuba Eminoğlu
Journal: Molecular Syndromology
Mol Syndromol (2024)
https://doi.org/10.1159/000543315
Published Online: 24 December 2024
View articletitled, Siblings with a Homozygous Variant in the NHP2 Gene: A Case Report and Review of Literature
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