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Article

Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia.

Human mutation - 1 May 2009

Chassaing Nicolas, Golzio Christelle, Odent Sylvie, Lequeux Léopoldine, Vigouroux Adeline, Martinovic-Bouriel Jelena, Tiziano Francesco Danilo, Masini Lucia, Piro Francesca, Maragliano Giovanna, Delezoide Anne-Lise, Attié-Bitach Tania, Manouvrier-Hanu Sylvie, Etchevers Heather C, Calvas Patrick

Abstract excerpt

Matthew-Wood, Spear, PDAC or MCOPS9 syndrome are alternative names used to refer to combinations of microphthalmia/anophthalmia, malformative cardiac defects, pulmonary dysgenesis, and diaphragmatic hernia. Recently, mutations in STRA6, encoding a membrane receptor for vitamin A-bearing plasma re...

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Source

Identifiers

PMID: 19309693
DOI: 10.1002/humu.21023

Genes

STRA6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19309693-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia.PMID 19309693Read ↗

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