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Article

Genetics of anophthalmia and microphthalmia. Part 2: Syndromes associated with anophthalmia-microphthalmia.

Human genetics - 1 Sept 2019

Slavotinek Anne

Abstract excerpt

As new genes for A/M are identified in the genomic era, the number of syndromes associated with A/M has greatly expanded. In this review, we provide a brief synopsis of the clinical presentation and molecular genetic etiology of previously characterized pathways involved in A/M, including the Sex-determining region Y-box 2 (SOX2), Orthodenticle Homeobox 2 (OTX2) and Paired box protein-6 (PAX6) genes, and the...

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Source

Identifiers

PMID: 30374660
DOI: 10.1007/s00439-018-1949-1

Genes

ALDH1A3
BCOR
BMP4
BMP7
COX7B
HCCS
NDUFB11
OTX2
PAX6
SHH
SLC25A24
SMCHD1
SMO
SMOC1
SOX2
SPARC
STRA6
YAP1

Provenance

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