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Article

A broad range of ophthalmologic anomalies is part of the holoprosencephaly spectrum.

American journal of medical genetics. Part A - 1 Nov 2011

Pineda-Alvarez Daniel E, Solomon Benjamin D, Roessler Erich, Balog Joan Z, Hadley Donald W, Zein Wadih M, Hadsall Casey K, Brooks Brian P, Muenke Maximilian

Abstract excerpt

Holoprosencephaly (HPE) is the most common disorder of the developing forebrain in humans, and is characterized by failed or incomplete cleavage of the cerebral hemispheres and deep brain structures. HPE includes wide phenotypic variability, with a continuum of both brain and craniofacial anomalies. While "classic" eye findings, including the spectrum of midline anomalies ranging from cyclopia to hypotelorism, as...

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Source

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Identifiers

PMID: 21976454
DOI: 10.1002/ajmg.a.34261
PMCID: PMC3200498

Genes

FGF8
SHH
SIX3
ZIC2

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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