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Article

New ocular finding in Baraitser-Winter syndrome (BWS).

European journal of medical genetics - 1 Jan 2018

Rall Natalie, Leon Alejandro, Gomez Ricardo, Daroca Jessica, Lacassie Yves

Abstract excerpt

Baraitser-Winter syndrome was first described as a syndrome of iris coloboma, ptosis, hypertelorism, and mental retardation (Baraitser and Winter 1988; Baraitser, 2016). The phenotypic spectrum has since broadened to include other facial dysmorphic features, deafness, microcephaly, lissencephaly, and CNS findings (Baraitser and Winter 1988; Ganesh et al., 2005; Henedy et al., 2010; Verloes et al., 2015). The...

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Source

Identifiers

PMID: 29024830
DOI: 10.1016/j.ejmg.2017.10.006

Genes

ACTB
ACTG1

Provenance

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