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Article

Warsaw breakage syndrome: Further clinical and genetic delineation.

American journal of medical genetics. Part A - 1 Nov 2018

Alkhunaizi Ebba, Shaheen Ranad, Bharti Sanjay Kumar, Joseph-George Ann M, Chong Karen, Abdel-Salam Ghada M H, Alowain Mohammed, Blaser Susan I, Papsin Blake C, Butt Mohammed, Hashem Mais, Martin Nicole, Godoy Ruth, Brosh Robert M, Alkuraya Fowzan S, Chitayat David

Abstract excerpt

Warsaw breakage syndrome (WBS) is a recently recognized DDX11-related rare cohesinopathy, characterized by severe prenatal and postnatal growth restriction, microcephaly, developmental delay, cochlear anomalies, and sensorineural hearing loss. Only seven cases have been reported in the English literature, and thus the information on the phenotype and genotype of this interesting condition is limited. We provide...

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Identifiers

PMID: 30216658
DOI: 10.1002/ajmg.a.40482
PMCID: PMC6289708

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