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Article

Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR.

Nature genetics - 1 Apr 2004

Ng David, Thakker Nalin, Corcoran Connie M, Donnai Dian, Perveen Rahat, Schneider Adele, Hadley Donald W, Tifft Cynthia, Zhang Liqun, Wilkie Andrew O M, van der Smagt Jasper J, Gorlin Robert J, Burgess Shawn M, Bardwell Vivian J, Black Graeme C M, Biesecker Leslie G

Abstract excerpt

Lenz microphthalmia is inherited in an X-linked recessive pattern and comprises microphthalmia, mental retardation, and skeletal and other anomalies. Two loci associated with this syndrome, MAA (microphthalmia with associated anomalies) and MAA2, are situated respectively at Xq27-q28 (refs. 1,2) and Xp11.4-p21.2 (ref. 3). We identified a substitution, nt 254C-->T; P85L, in BCOR (encoding BCL-6-interacting...

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Source

Identifiers

PMID: 15004558
DOI: 10.1038/ng1321

Genes

BCOR

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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Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR.PMID 15004558Read ↗

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