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Article

Incomplete penetrance of biallelic ALDH1A3 mutations.

European journal of medical genetics - 1 Apr 2016

Plaisancié Julie, Brémond-Gignac Dominique, Demeer Bénédicte, Gaston Véronique, Verloes Alain, Fares-Taie Lucas, Gerber Sylvie, Rozet Jean-Michel, Calvas Patrick, Chassaing Nicolas

Abstract excerpt

The formation of a properly shaped eye is a complex developmental event that requires the coordination of many induction processes and differentiation pathways. Microphthalmia and anophthalmia (MA) represent the most severe defects that can affect the ocular globe during embryonic development. When genetic, these ocular disorders exhibit large genetic heterogeneity and extreme variable expressivity. Around 20...

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Identifiers

PMID: 26873617
DOI: 10.1016/j.ejmg.2016.02.004

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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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