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February 2025
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ISSN 1661-8769
EISSN 1661-8777
In this Issue
Molecular Syndromology 2025, Vol. 16, No. 1
Original Article
Expression of Autophagy-Related Proteins in Microlissencephaly Associated with a Novel Variant in the WDR81 Gene
Subject Area:
Genetics
Hatice Yelda Yalçın; Ufkay Karabay; Tayfun Cinleti; Pelin Teke Kısa; Mehtap Yüksel Eğrilmez; Akif Ayaz; Nihal Aydın
Mol Syndromol (2025) 16 (1): 1–10.
https://doi.org/10.1159/000540339
A Unique Derivative Chromosome 4 with a Predominant 4p16.3 Microduplication Phenotype and a Literature Review
Subject Area:
Genetics
Mona K. Mekkawy; Alaa K. Kamel; Khaled M. Refaat; Abdelrahman Madian; Mahmoud Issa; Sally G. Abd Allah; Ola M. Eid; Maha S. Zaki; Amal M. Mohamed
Mol Syndromol (2025) 16 (1): 11–28.
https://doi.org/10.1159/000540454
Novel Insights from Clinical Practice
PACS2, PACS1, and VACTERL: A Clinical Overlap
Subject Area:
Genetics
Mol Syndromol (2025) 16 (1): 29–32.
https://doi.org/10.1159/000539473
Homozygous Intragenic Deletion in WDR62 in Siblings with Primary Microcephaly
Subject Area:
Genetics
Mol Syndromol (2025) 16 (1): 33–37.
https://doi.org/10.1159/000540108
Kabuki Syndrome: Case Report of Severe Prenatal Midface Hypoplasia (Binder Phenotype), due to a Novel Variant in the KMT2D Gene
Subject Area:
Genetics
Athanasios Gatsis; Maria Alvanou; Elisavet Christidou; Eleftheria Demertzidou; Aggeliki Kontou; Theodora Stathopoulou; Kosmas Sarafidis; Alexandros Sotiriadis; Athina Ververi
Mol Syndromol (2025) 16 (1): 38–42.
https://doi.org/10.1159/000540088
A Novel Loss-of-Function Variant in COL4A3 in a Consanguineous Moroccan Family Displaying the Alport Syndrome with Variable Clinical Expression
Subject Area:
Genetics
Mol Syndromol (2025) 16 (1): 43–48.
https://doi.org/10.1159/000540122
A Case of Opsismodysplasia with a Novel INPPL1 Variant
Subject Area:
Genetics
Mol Syndromol (2025) 16 (1): 49–54.
https://doi.org/10.1159/000540189
Kabuki Syndrome and Charcot-Marie-Tooth Disease Co-Occurrence: Unique Case with Novel Variant
Subject Area:
Genetics
Mol Syndromol (2025) 16 (1): 55–60.
https://doi.org/10.1159/000540207
A Novel Splice Site Variant in KLHL40 Gene in Multiple Affected NEM8 Family Members Who Present Phenotypic Variability
Subject Area:
Genetics
Beria Sönmez; Mehmet Kocabey; Ayşe İpek Polat; Semra Gürsoy; Pakize Karaoğlu; Rita Horvath; Katherine R. Schon; Ayfer Ülgenalp; Uluç Yiş; Ahmet Okay Çağlayan; Özlem Giray Bozkaya
Mol Syndromol (2025) 16 (1): 61–68.
https://doi.org/10.1159/000540325
A Novel Truncating Variant in Sandestig-Stefanova Syndrome with Hydrocephalus
Subject Area:
Genetics
Gülnihal Bulut; Gözde Tutku Turgut; Güven Toksoy; Umut Altunoğlu; Ayça Dilruba Aslanger; Zehra Oya Uyguner; Birsen Karaman
Mol Syndromol (2025) 16 (1): 69–76.
https://doi.org/10.1159/000540314
Key Clinical and X-Ray Characteristics for the Diagnosis of Kenny-Caffey Syndrome Types 1 and 2
Subject Area:
Genetics
Mol Syndromol (2025) 16 (1): 77–86.
https://doi.org/10.1159/000540377
A Novel Homozygous Variant in CPLANE1 Gene in a Patient with Developmental Deficits
Subject Area:
Genetics
Bhagyalakshmi Shankarappa; Vishnu P. Prasad; Sujith Kumar; Ravi Shankar Rao; Angel Beula Royal; Mahadeva Swamy; Pannaga Prasad; Ashitha S. Niranjana Murthy; Suhas Ganesh; Biju Viswanath; Sanjeev Jain; Meera Purushottam; Murali Thyloth
Mol Syndromol (2025) 16 (1): 87–92.
https://doi.org/10.1159/000541167
A Novel PNPLA2 Variant in a Female Patient with Neutral Lipid Storage Disease with Myopathy and Hypogonadotropic Hypogonadism
Subject Area:
Genetics
Mol Syndromol (2025) 16 (1): 93–98.
https://doi.org/10.1159/000541285