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Article

Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome.

American journal of medical genetics. Part A - 1 Sept 2014

Bayram Yavuz, Pehlivan Davut, Karaca Ender, Gambin Tomasz, Jhangiani Shalini N, Erdin Serkan, Gonzaga-Jauregui Claudia, Wiszniewski Wojciech, Muzny Donna, Elcioglu Nursel H, Yildirim M Selman, Bozkurt Banu, Zamani Ayse Gul, Boerwinkle Eric, Gibbs Richard A, Lupski James R

Abstract excerpt

GAPO syndrome (OMIM#230740) is the acronym for growth retardation, alopecia, pseudoanodontia, and optic atrophy. About 35 cases have been reported, making it among one of the rarest recessive conditions. Distinctive craniofacial features including alopecia, rarefaction of eyebrows and eyelashes, frontal bossing, high forehead, mid-facial hypoplasia, hypertelorism, and thickened eyelids and lips make GAPO syndrome...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 25045128
DOI: 10.1002/ajmg.a.36678
PMCID: PMC4332576

Genes

ANTXR1

Variants

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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Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome.PMID 25045128Read ↗

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