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Journal Articles

A Male Child with Infantile Epilepsy due to a Mosaic Missense Variant of PCDH19

Subject Area:
Endocrinology , Further Areas , Genetics , Women's and Children's Health
Giulia Parmeggiani, Raffaella Minardi, Antonella Boni, Jacopo Pruccoli, Antonella Pini, Laura Licchetta, Francesca Bisulli, Claudio Graziano, Marco Seri
Journal: Molecular Syndromology
Mol Syndromol 1–5.
https://doi.org/10.1159/000535144
Published Online: 06 December 2023
View article titled, A Male Child with Infantile Epilepsy due to a Mosaic Missense Variant of PCDH19
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Journal Articles

Acknowledgement to Reviewers

Subject Area:
Endocrinology , Further Areas , Genetics , Women's and Children's Health
Journal: Molecular Syndromology
Mol Syndromol (2023) 14 (6): 530.
https://doi.org/10.1159/000534746
Published Online: 05 December 2023
View article titled, Acknowledgement to Reviewers
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Journal Articles

Contents Vol. 14, 2023

Subject Area:
Endocrinology , Further Areas , Genetics , Women's and Children's Health
Journal: Molecular Syndromology
Mol Syndromol (2023) 14 (6): 531–536.
https://doi.org/10.1159/000535256
Published Online: 05 December 2023
View article titled, Contents Vol. 14, 2023
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Journal Articles

Report of a Novel Homozygous Intragenic DCC Duplication and a Review of Literature of Developmental Split-Brain Syndrome aka Horizontal Gaze Palsy with Progressive Scoliosis-2 with Impaired Intellectual Development Syndrome

Subject Area:
Endocrinology , Further Areas , Genetics , Women's and Children's Health
Elisa Rahikkala, Taneli Väisänen, Liisa Ojala, Pia Pohjola, Minna Toivonen, Riitta Parkkola, Maria K. Haanpää
Journal: Molecular Syndromology
Mol Syndromol 1–7.
https://doi.org/10.1159/000534772
Published Online: 04 December 2023
View article titled, Report of a Novel Homozygous Intragenic DCC Duplication and a Review of Literature of Developmental Split-Brain Syndrome aka Horizontal Gaze Palsy with Progressive Scoliosis-2 with Impaired Intellectual Development Syndrome
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Journal Articles

A Rare Treatable Cause of Cardiomyopathy: Primary Carnitine Deficiency

Subject Area:
Endocrinology , Further Areas , Genetics , Women's and Children's Health
Hacer Basan, Emine Azak, İbrahim İlker Çetin, Esra Kılıç, Berrak Bilginer Gürbüz, Sümeyra Zeynep Özbey, Çiğdem Seher Kasapkara
Journal: Molecular Syndromology
Mol Syndromol 1–5.
https://doi.org/10.1159/000534932
Published Online: 27 November 2023
View article titled, A Rare Treatable Cause of Cardiomyopathy: Primary Carnitine Deficiency
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Journal Articles

A Homozygous Missense Variant in HSD17B4 Identified in Two Different Families

Subject Area:
Endocrinology , Further Areas , Genetics , Women's and Children's Health
Pınar Özkan Kart, Yavuz Sahin, Nihal Yıldız, Alper Han Cebi, Gulnur Esenulku, Ali Cansu
Journal: Molecular Syndromology
Mol Syndromol 1–6.
https://doi.org/10.1159/000534785
Published Online: 14 November 2023
View article titled, A Homozygous Missense Variant in HSD17B4 Identified in Two Different Families
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Journal Articles

A Novel Variant in AKAP9 Gene, a Controversial Gene, in Long QT Syndrome

Subject Area:
Endocrinology , Further Areas , Genetics , Women's and Children's Health
Murat Erdogan, Suleyman Sunkak, Oguzhan Bahadır, Muhammet Ensar Doğan, Yasin Ada, Burhan Balta
Journal: Molecular Syndromology
Mol Syndromol 1–7.
https://doi.org/10.1159/000534624
Published Online: 13 November 2023
View article titled, A Novel Variant in AKAP9 Gene, a Controversial Gene, in Long QT Syndrome
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Journal Articles

Sepiapterin Reductase Deficiency Misdiagnosed as Neurological Sequelae of Meningitis

Subject Area:
Endocrinology , Further Areas , Genetics , Women's and Children's Health
Aysenur Engin Erdal, Oya Kıreker Köylü, Ahmet Cevdet Ceylan, Çiğdem Seher Kasapkara, Ebru Tunçez, Meral Topçu
Journal: Molecular Syndromology
Mol Syndromol 1–6.
https://doi.org/10.1159/000534587
Published Online: 08 November 2023
View article titled, Sepiapterin Reductase Deficiency Misdiagnosed as Neurological Sequelae of Meningitis
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Journal Articles

Reanalysis of Whole-Exome Sequencing Data of an Infant with Suspected Diagnosis of Jeune Syndrome Revealed a Likely Pathogenic Variant in GRK2: A Newly Associated Gene for Jeune Syndrome Phenotype

Subject Area:
Endocrinology , Further Areas , Genetics , Women's and Children's Health
Vehap Topcu, Said Furkan Yildirim, Husnu Mutlu Turan
Journal: Molecular Syndromology
Mol Syndromol 1–6.
https://doi.org/10.1159/000534031
Published Online: 03 November 2023
View article titled, Reanalysis of Whole-Exome Sequencing Data of an Infant with Suspected Diagnosis of Jeune Syndrome Revealed a Likely Pathogenic Variant in GRK2: A Newly Associated Gene for Jeune Syndrome Phenotype
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Journal Articles

Currarino Syndrome in Two Moroccan Siblings with Inherited 7q36 Deletion due to Maternal t(7;21)(q36;p11)mat: A Case Report

Subject Area:
Endocrinology , Further Areas , Genetics , Women's and Children's Health
Zhour El Amrani, Abdelhafid Natiq, Aziza Sbiti, Ilham Ratbi, Thomas Liehr, Abdelaziz Sefiani, Maryem Sahli
Journal: Molecular Syndromology
Mol Syndromol 1–5.
https://doi.org/10.1159/000534432
Published Online: 03 November 2023
View article titled, Currarino Syndrome in Two Moroccan Siblings with Inherited 7q36 Deletion due to Maternal t(7;21)(q36;p11)mat: A Case Report
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Journal Articles

Coexistence of Two Rare Conditions Complicating the Other’s Management: Propionic Acidemia and Apert Syndrome

Subject Area:
Endocrinology , Further Areas , Genetics , Women's and Children's Health
Cansu Kethuda Ensert Cihan, Halil Tuna Akar, Yılmaz Yıldız, Merve Sogukpinar, Gulen Eda Utine, Hasan Tolga Çelik
Journal: Molecular Syndromology
Mol Syndromol 1–5.
https://doi.org/10.1159/000534380
Published Online: 27 October 2023
View article titled, Coexistence of Two Rare Conditions Complicating the Other’s Management: Propionic Acidemia and Apert Syndrome
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Journal Articles

Detecting a Novel NOTCH3 Variant in Patients with Suspected CADASIL: A Single Center Study

Subject Area:
Endocrinology , Further Areas , Genetics , Women's and Children's Health
Zeynep Selcan Şanli, Özlem Anlaş
Journal: Molecular Syndromology
Mol Syndromol 1–7.
https://doi.org/10.1159/000534243
Published Online: 20 October 2023
View article titled, Detecting a Novel NOTCH3 Variant in Patients with Suspected CADASIL: A Single Center Study
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Journal Articles

Molecular Diagnosis of Limb-Girdle Muscular Dystrophy Using Next-Generation Sequencing Panels

Subject Area:
Endocrinology , Further Areas , Genetics , Women's and Children's Health
Gamze Sarıkaya Uzan, Ceren Yılmaz Uzman, Tayfun Çinleti, Çağatay Günay, Ayfer Ülgenalp, Semra Hiz Kurul, Uluç Yiş
Journal: Molecular Syndromology
Mol Syndromol 1–8.
https://doi.org/10.1159/000533976
Published Online: 16 October 2023
View article titled, Molecular Diagnosis of Limb-Girdle Muscular Dystrophy Using Next-Generation Sequencing Panels
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Journal Articles

A Deeper Insight into COL4A3 , COL4A4 , and COL4A5 Variants and Genotype-Phenotype Correlation of a Turkish Cohort with Alport Syndrome

Subject Area:
Endocrinology , Further Areas , Genetics , Women's and Children's Health
Cüneyd Yavaş, Nehir Ozdemir Ozgenturk, Mustafa Dogan, Alper Gezdirici, Ece Keskin, Ezgi Gokpınar İli, Tunay Dogan, Evrim Celebi, Onur Bender, Cemal Un
Journal: Molecular Syndromology
Mol Syndromol 1–13.
https://doi.org/10.1159/000533915
Published Online: 16 October 2023
View article titled, A Deeper Insight into COL4A3 , COL4A4 , and COL4A5 Variants and Genotype-Phenotype Correlation of a Turkish Cohort with Alport Syndrome
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Journal Articles

TPP1 Variants in Iranian patients: A Novel Pathogenic Homozygous Variant Causing Neuronal Ceroid Lipofuscinosis 2

Subject Area:
Endocrinology , Further Areas , Genetics , Women's and Children's Health
Nahid Vafaei, Ali Mohebbi, Zahra Rezaei, Morteza Heidari, Sareh Hosseinpour, Ali Zare Dehnavi, Azin Ghamari, Masoud Salehipour, Ali Rabbani, Nejat Mahdieh, Mahmoud Reza Ashrafi
Journal: Molecular Syndromology
Mol Syndromol 1–7.
https://doi.org/10.1159/000534100
Published Online: 16 October 2023
View article titled, TPP1 Variants in Iranian patients: A Novel Pathogenic Homozygous Variant Causing Neuronal Ceroid Lipofuscinosis 2
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Journal Articles

Association of ABCA13 Gene Variants with Autism Spectrum Disorder and Other Neuropsychiatric Disorders

Subject Area:
Endocrinology , Further Areas , Genetics , Women's and Children's Health
Hamide Betul Gerik-Celebi, Gul Unsel-Bolat, Hilmi Bolat
Journal: Molecular Syndromology
Mol Syndromol 1–8.
https://doi.org/10.1159/000534123
Published Online: 16 October 2023
View article titled, Association of ABCA13 Gene Variants with Autism Spectrum Disorder and Other Neuropsychiatric Disorders
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Journal Articles

Erratum - Innovating Therapies for Down Syndrome: An International Virtual Conference of the T21 Research Society

Subject Area:
Endocrinology , Further Areas , Genetics , Women's and Children's Health
Journal: Molecular Syndromology
Mol Syndromol 1.
https://doi.org/10.1159/000534309
Published Online: 12 October 2023
View article titled, Erratum - Innovating Therapies for Down Syndrome: An International Virtual Conference of the T21 Research Society
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Journal Articles

A Rare Presentation of Homozygous Pathogenic Variant in MC2R Gene with Salt-Wasting Crisis in a Neonate

Subject Area:
Endocrinology , Further Areas , Genetics , Women's and Children's Health
Aysenur Kardas Yildiz, Ali Bulbul, Buse Ozer Bekmez, Ayberk Turkyilmaz, Kerem Terali, Aydilek Dagdeviren Cakir, Ahmet Ucar
Journal: Molecular Syndromology
Mol Syndromol 1–6.
https://doi.org/10.1159/000533986
Published Online: 02 October 2023
View article titled, A Rare Presentation of Homozygous Pathogenic Variant in MC2R Gene with Salt-Wasting Crisis in a Neonate
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Journal Articles

Triple-A Syndrome in Morocco: Founder Effect, Age Estimation of the AAAS c.1331+1G>A Variant, and Implications for Genetic Diagnosis

Subject Area:
Endocrinology , Further Areas , Genetics , Women's and Children's Health
Karam Yahya Belmokhtar, Imane Cherkaoui, Saida Lhousni, Mounia Elidrissi Errahhali, Manal Elidrissi Errahhali, Majida Charif, Redouane Boulouiz, Meryem Ouarzane, Aziza Elouali, Ayad Ghanam, Abdeladim Babakhouya, Maria Rkain, Noufissa Benajiba, Mohammed Bellaoui
Journal: Molecular Syndromology
Mol Syndromol 1–8.
https://doi.org/10.1159/000533894
Published Online: 29 September 2023
View article titled, Triple-A Syndrome in Morocco: Founder Effect, Age Estimation of the AAAS c.1331+1G>A Variant, and Implications for Genetic Diagnosis
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Journal Articles

Expanding the Phenotypic and Genotypic Spectrum of Weaver Syndrome: A Missense Variant of the EZH2 Gene

Subject Area:
Endocrinology , Further Areas , Genetics , Women's and Children's Health
Yasemin Kendir-Demirkol, Burcu Yeter, Laura A. Jenny
Journal: Molecular Syndromology
Mol Syndromol 1–6.
https://doi.org/10.1159/000533733
Published Online: 28 September 2023
View article titled, Expanding the Phenotypic and Genotypic Spectrum of Weaver Syndrome: A Missense Variant of the EZH2 Gene
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