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Molecular Syndromology 2024, Vol. 15, No. 2
Original Article
Detecting a Novel NOTCH3 Variant in Patients with Suspected CADASIL: A Single Center Study
Subject Area:
Genetics
Mol Syndromol (2024) 15 (2): 89–95.
https://doi.org/10.1159/000534243
Triple-A Syndrome in Morocco: Founder Effect, Age Estimation of the AAAS c.1331+1G>A Variant, and Implications for Genetic Diagnosis
Subject Area:
Genetics
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
Mol Syndromol (2024) 15 (2): 96–103.
https://doi.org/10.1159/000533894
Severe Early-Onset Obesity and Diabetic Ketoacidosis due to a Novel Homozygous c.169C>T p.Arg57* Variant in CEP19 Gene
Subject Area:
Genetics
Atilla Cayir; Ayberk Turkyilmaz; Hannah Rabenstein; Fadime Guven; Yuksel Sumeyra Karagoz; Dogus Vuralli; Martin Wabitsch; Huseyin Demirbilek
Mol Syndromol (2024) 15 (2): 104–113.
https://doi.org/10.1159/000535253
Brief Report
A Male Child with Infantile Epilepsy due to a Mosaic Missense Variant of PCDH19
Subject Area:
Genetics
Giulia Parmeggiani; Raffaella Minardi; Antonella Boni; Jacopo Pruccoli; Antonella Pini; Laura Licchetta; Francesca Bisulli; Claudio Graziano; Marco Seri
Mol Syndromol (2024) 15 (2): 114–118.
https://doi.org/10.1159/000535144
Novel Insights from Clinical Practice
Currarino Syndrome in Two Moroccan Siblings with Inherited 7q36 Deletion due to Maternal t(7;21)(q36;p11)mat: A Case Report
Subject Area:
Genetics
Zhour El Amrani; Abdelhafid Natiq; Aziza Sbiti; Ilham Ratbi; Thomas Liehr; Abdelaziz Sefiani; Maryem Sahli
Mol Syndromol (2024) 15 (2): 125–129.
https://doi.org/10.1159/000534432
Sepiapterin Reductase Deficiency Misdiagnosed as Neurological Sequelae of Meningitis
Subject Area:
Genetics
Aysenur Engin Erdal; Oya Kıreker Köylü; Ahmet Cevdet Ceylan; Çiğdem Seher Kasapkara; Ebru Tunçez; Meral Topçu
Mol Syndromol (2024) 15 (2): 130–135.
https://doi.org/10.1159/000534587
A Novel Variant in AKAP9 Gene, a Controversial Gene, in Long QT Syndrome
Subject Area:
Genetics
Mol Syndromol (2024) 15 (2): 136–142.
https://doi.org/10.1159/000534624
A Homozygous Missense Variant in HSD17B4 Identified in Two Different Families
Subject Area:
Genetics
Mol Syndromol (2024) 15 (2): 143–148.
https://doi.org/10.1159/000534785
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:
Genetics
Elisa Rahikkala; Taneli Väisänen; Liisa Ojala; Pia Pohjola; Minna Toivonen; Riitta Parkkola; Maria K. Haanpää
Mol Syndromol (2024) 15 (2): 149–155.
https://doi.org/10.1159/000534772
A Rare Treatable Cause of Cardiomyopathy: Primary Carnitine Deficiency
Subject Area:
Genetics
Hacer Basan; Emine Azak; İbrahim İlker Çetin; Esra Kılıç; Berrak Bilginer Gürbüz; Sümeyra Zeynep Özbey; Çiğdem Seher Kasapkara
Mol Syndromol (2024) 15 (2): 156–160.
https://doi.org/10.1159/000534932
Expanding the Phenotypic and Genotypic Spectrum of Weaver Syndrome: A Missense Variant of the EZH2 Gene
Subject Area:
Genetics
Mol Syndromol (2024) 15 (2): 161–166.
https://doi.org/10.1159/000533733
Delayed Bone Age in a Child with a Novel Loss-of-Function Variant in SETBP1 Gene Sheds Light on the Potential Role of SETBP1 Protein in Skeletal Development
Subject Area:
Genetics
Mol Syndromol (2024) 15 (2): 167–174.
https://doi.org/10.1159/000535057
