Recurrence of SOX2 anophthalmia syndrome with gonosomal mosaicism in a phenotypically normal mother.

Laurence Faivre; Kathleen A Williamson; Valérie Faber; Nicole Laurent; Marianne Grimaldi; Christel Thauvin-Robinet; Christine Durand; Francine Mugneret; Jean-Bernard Gouyon; Alain Bron

doi:10.1002/ajmg.a.31114

Recurrence of SOX2 anophthalmia syndrome with gonosomal mosaicism in a phenotypically normal mother.

Identifier:nobleid.org/w1/20260515/4C2F18BE

Type:Journal Article

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Laurence Faivre

Kathleen A Williamson

Valérie Faber

Nicole Laurent

Marianne Grimaldi

Christel Thauvin-Robinet

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Recurrence of SOX2 anophthalmia syndrome with gonosomal mosaicism in a phenotypically normal mother.

Identifier:nobleid.org/w1/20260515/4C2F18BE

Type:Journal Article

0 views

Support unavailableClaim Your Authorship

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[![NobleID](https://www.nobleid.org/api/badge/4C2F18BE.svg?ark=w1%2F20260515%2F4C2F18BE)](https://nobleid.org/work/w1/20260515/4C2F18BE)

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Metadata Policy

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Bibliometric Analysis

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Authors & Claims

Paper Authors

Laurence Faivre

Kathleen A Williamson

Valérie Faber

Nicole Laurent

Marianne Grimaldi

Christel Thauvin-Robinet

Claim authorship of this work