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Article

Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia.

American journal of human genetics - 3 Oct 2013

Srour Myriam, Chitayat David, Caron Véronique, Chassaing Nicolas, Bitoun Pierre, Patry Lysanne, Cordier Marie-Pierre, Capo-Chichi José-Mario, Francannet Christine, Calvas Patrick, Ragge Nicola, Dobrzeniecka Sylvia, Hamdan Fadi F, Rouleau Guy A, Tremblay André, Michaud Jacques L

Abstract excerpt

Anophthalmia and/or microphthalmia, pulmonary hypoplasia, diaphragmatic hernia, and cardiac defects are the main features of PDAC syndrome. Recessive mutations in STRA6, encoding a membrane receptor for the retinol-binding protein, have been identified in some cases with PDAC syndrome, although m...

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Source

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Identifiers

PMID: 24075189
DOI: 10.1016/j.ajhg.2013.08.014
PMCID: PMC3791254

Genes

RARB
STRA6

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24075189-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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