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Article

Clinical Report: Warsaw Breakage Syndrome with small radii and fibulae.

American journal of medical genetics. Part A - 1 Nov 2017

Eppley Sarah, Hopkin Robert J, Mendelsohn Bryce, Slavotinek Anne M

Abstract excerpt

We present two new cases of Warsaw Breakage Syndrome (WABS), an autosomal recessive cohesinopathy, in sisters aged 13 and 11 years who both had compound heterozygous mutations in DDX11. After exclusion of Fanconi anemia, Bloom syndrome and Nijmegen breakage syndrome, whole exome sequencing revealed two novel variants-c.1523T>G, predicting (p.Leu508Arg) and c.1949-1G>A (IVS19-1G>A), that were confirmed with Sanger...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28960803
DOI: 10.1002/ajmg.a.38382

Genes

DDX11

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Clinical Report: Warsaw Breakage Syndrome with small radii and fibulae.PMID 28960803Read ↗

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