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Article

Germinal mosaicism and familial recurrence of a SOX2 mutation with highly variable phenotypic expression extending from AEG syndrome to absence of ocular involvement.

American journal of medical genetics. Part A - 1 Feb 2007

Chassaing Nicolas, Gilbert-Dussardier Brigitte, Nicot Florence, Fermeaux Véronique, Encha-Razavi Férechté, Fiorenza Maryse, Toutain Annick, Calvas Patrick

Abstract excerpt

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Source

Identifiers

PMID: 17219395
DOI: 10.1002/ajmg.a.31524

Genes

SOX2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Germinal mosaicism and familial recurrence of a SOX2 mutation with highly variable phenotypic expression extending from AEG syndrome to absence of ocular involvement.PMID 17219395Read ↗

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