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Molecular Syndromology 2022, Vol. 13, No. 5
Editorial - Late Breaking Chromosomes
Expanded Phenotypic Spectrum or Multiple Syndromes?
Mol Syndromol (2022) 13 (5): 361–362.
https://doi.org/10.1159/000526893
Original Article
Cytogenomic Characterization of a Novel de novo Balanced Reciprocal Translocation t(1;12) by Genome Sequencing Leading to Fusion Gene Formation of EYA3/EFCAB4b
Usha R. Dutta; Amrita Bhattacherjee; Ashish Bahal; Laxmi P. Posanapally; Kaisar A. Lone; Siddardha Bathula; Ashwin Dalal
Mol Syndromol (2022) 13 (5): 370–380.
https://doi.org/10.1159/000522011
Clinical Features of Okur-Chung Neurodevelopmental Syndrome: Case Report and Literature Review
Hossein Jafari Khamirani; Sina Zoghi; Ali Motealleh; Mehdi Dianatpour; Seyed Mohammad Bagher Tabei; Sanaz Mohammadi; Seyed Alireza Dastgheib
Mol Syndromol (2022) 13 (5): 381–388.
https://doi.org/10.1159/000522353
Further Evidence of a Continuum in the Clinical Spectrum of Dominant PIEZO2-Related Disorders and Implications in Cerebellar Anomalies
Ghada M.H. Abdel-Salam; Hanan H. Afifi; Sahar N. Saleem; Mohamed I. Gadelhak; Manar A. El-Serafy; Inas S.M. Sayed; Mohamed S. Abdel-Hamid
Mol Syndromol (2022) 13 (5): 389–396.
https://doi.org/10.1159/000523956
Short Report
Novel Insights from Clinical Practice
Mosaic Variegated Aneuploidy Syndrome and Noonan Syndrome in the Same Family
Mol Syndromol (2022) 13 (5): 402–408.
https://doi.org/10.1159/000523877
Pre- and Postnatal Characterization of Autosomal Recessive KIDINS220-Associated Ventriculomegaly
Mol Syndromol (2022) 13 (5): 419–424.
https://doi.org/10.1159/000522486
Growth Hormone Deficiency due to p.(Gln467Argfs*64) Mutation in the ARID1B Gene in a Girl with Coffin-Siris Syndrome
Stella Mouskou; Sofia Leka-Emiri; Anastasia Korona; Sotiria Mastroyanni; Emmanouil Manolakos; Ioannis Papoulidis; Nick Sekouris; Adamantios Katerelos; Efstathia Katsarou-Pectasides; Konstantinos Voudris
Mol Syndromol (2022) 13 (5): 425–432.
https://doi.org/10.1159/000522532
Rare Transient Infantile Hypertriglyceridemia with Hypoglycemia and Insulin Resistance Caused by a Novel GPD1 Mutation
Yanfang Tan; Wenxian Ouyang; Yuting Ma; Tao Jiang; Lian Tang; Hui Zhang; Zhen Kang; Xiaomei Qin; Ying Yu; Shuangjie Li
Mol Syndromol (2022) 13 (5): 433–439.
https://doi.org/10.1159/000523764
Recurrent Vein of Galen Aneurysmal Malformation as a Presentation of Hereditary Hemorrhagic Telangiectasia
Mol Syndromol (2022) 13 (5): 440–446.
https://doi.org/10.1159/000522352
First Patient Diagnosed as Feingold Syndrome Type 2 with Alport Syndrome and Review of the Current Literature
Mol Syndromol (2022) 13 (5): 447–453.
https://doi.org/10.1159/000524058
Co-Occurring Atypical Galactosemia and Wilson Disease
Neslihan Doğulu; Engin Kose; Ceyda Tuna Kirsaçlioğlu; Fatih S. Ezgü; Zarife Kuloğlu; Aydan Kansu; Fatma T. Eminoglu
Mol Syndromol (2022) 13 (5): 454–458.
https://doi.org/10.1159/000524004
