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Article

CHX10 mutations cause non-syndromic microphthalmia/ anophthalmia in Arab and Jewish kindreds.

Human genetics - 1 Sept 2004

Bar-Yosef Udy, Abuelaish Izzeldin, Harel Tamar, Hendler Neta, Ofir Rivka, Birk Ohad S

Abstract excerpt

Microphthalmia/anophthalmia is a clinically heterogeneous disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. The genetic defect underlying isolated autosomal recessive microphthalmia/anophthalmia is yet unclear. We studied four families (two of Arab origin, one of Bedouin origin, and one of Persian-Jewish origin) with autosomal recessive...

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Source

Identifiers

PMID: 15257456
DOI: 10.1007/s00439-004-1154-2

Genes

EYA1
EYA2
EYA3
PAX6
SIX4
SIX6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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CHX10 mutations cause non-syndromic microphthalmia/ anophthalmia in Arab and Jewish kindreds.PMID 15257456Read ↗

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