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Molecular Syndromology 2021, Vol. 12, No. 2
Editorial - Late Breaking Chromosomes
Precision Medicine: from Molecular Diagnoses to Treatment Opportunities in Medical Genetics
Mol Syndromol (2021) 12 (2): 65–68.
https://doi.org/10.1159/000515363
Review Article
Genetic Mutations Associated with Pierre Robin Syndrome/Sequence: A Systematic Review
Saranya Varadarajan; Thodur Madapusi Balaji; A. Thirumal Raj; Archana A. Gupta; Shankargouda Patil; Tariq Hassan Alhazmi; Halah Athman Ali Alaqi; Neda Essa M. Al Omar; Somayh Abu Baker A. Almutaher; Alhassen Abdurabu Jafer; Ismaeel Abker Hedad
Mol Syndromol (2021) 12 (2): 69–86.
https://doi.org/10.1159/000513217
Original Article
Interstitial Deletion of 2q22.2q22.3 Involving the Entire ZEB2 Gene in a Case of Mowat-Wilson Syndrome
Khaled Refaat; Nivine Helmy; Mohamed Elawady; Mona El Ruby; Alaa Kamel; Mona Mekkawy; Engy Ashaat; Ola Eid; Amal Mohamed; Mervat Rady
Mol Syndromol (2021) 12 (2): 87–95.
https://doi.org/10.1159/000513313
Short Report
Identification of Two Novel Frameshift Mutations in Exostosin 1 in Two Families with Multiple Osteochondromas
Mol Syndromol (2021) 12 (2): 96–100.
https://doi.org/10.1159/000512856
Novel Insights from Clinical Practice
Two Siblings with Kaufman Oculocerebrofacial Syndrome Resembling Oculoauriculovertebral Spectrum
Gizem Ürel-Demir; Büşra Aydın; Beren Karaosmanoğlu; Özlem Akgün-Doğan; Ekim Zihni Taşkıran; Pelin Özlem Şimşek-Kiper; Gülen Eda Utine; Koray Boduroğlu
Mol Syndromol (2021) 12 (2): 106–111.
https://doi.org/10.1159/000513078
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome Resembling Juvenile Idiopathic Arthritis: A Single-Center Experience from Southern Turkey
Rabia Miray Kisla Ekinci; Sibel Balci; Haldun Dogan; Serdar Ceylaner; Celal Varan; Sevcan Erdem; Fatma Coban; Atil Bisgin
Mol Syndromol (2021) 12 (2): 112–117.
https://doi.org/10.1159/000513111
A Recurrent Variant in POLR1B, c.3007C>T; p.Arg1003Cys, Associated with Atresia of the External Canal and Microtia in Treacher Collins Syndrome Type 4
Yumi Enomoto; Yoshinori Tsurusaki; Makiko Tominaga; Shinji Kobayashi; Maki Inoue; Kazutoshi Fujita; Tatsuro Kumaki; Hiroaki Murakami; Kenji Kurosawa
Mol Syndromol (2021) 12 (2): 127–132.
https://doi.org/10.1159/000513224