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Molecular Syndromology 2022, Vol. 13, No. 3
Review Article
Asprosin, a C-Terminal Cleavage Product of Fibrillin 1 Encoded by the FBN1 Gene, in Health and Disease
Article Collection:
High Impact Articles in Genetics
Mol Syndromol (2022) 13 (3): 175–183.
https://doi.org/10.1159/000520333
Original Article
Clinical Implications of Chromosome 16 Copy Number Variation
Topic Article Package:
Topic Article Package: ADC (Antibody-Drug Conjugates)
Mol Syndromol (2022) 13 (3): 184–192.
https://doi.org/10.1159/000517762
Novel Insights from Clinical Practice
Blended Phenotype of Pelger-Huet Anomaly with Osteochondroma and Autosomal Recessive Deafness with Enlarged Vestibular Aqueduct
Tayfun Cinleti; Ceren Yılmaz Uzman; Şefika Akyol; Özlem Tüfekçi; Murat Derya Erçal; Özlem Giray Bozkaya
Mol Syndromol (2022) 13 (3): 200–205.
https://doi.org/10.1159/000519364
A New Family with a Novel OTUD6B Mutation: Practicing Whole Exome Sequencing for Antenatal Diagnosis of Tetralogy of Fallot
Mol Syndromol (2022) 13 (3): 206–211.
https://doi.org/10.1159/000519557
Delineation of a Phenotype Caused by a KAT6B Missense Variant Not Resembling Say-Barber-Biesecker-Young-Simpson and Genitopatellar Syndromes
Naoto Nishimura; Yumi Enomoto; Tatsuro Kumaki; Hiroaki Murakami; Azusa Ikeda; Tomohide Goto; Kenji Kurosawa
Mol Syndromol (2022) 13 (3): 221–225.
https://doi.org/10.1159/000520134
A Patient with a Novel RARS2 Variant Exhibiting Liver Involvement as a New Clinical Feature and Review of the Literature
Mol Syndromol (2022) 13 (3): 226–234.
https://doi.org/10.1159/000519604
X-Linked Spinal Muscular Atrophy 2 due to a Synonymous Variant in the UBA1 Gene in a Family with Novel Findings from Turkey
Mol Syndromol (2022) 13 (3): 246–253.
https://doi.org/10.1159/000519640
