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BENETEAU , Claire

Last name: BENETEAU

First name: Claire

2023 (v1)

Publication

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Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities

Scala, Marcello Khan, Kamal Beneteau, Claire

Purpose: We established the genetic etiology of a syndromic neurodevelopmental condition characterized by variable cognitive impairment, recognizable facial dysmorphism, and a constellation of extra-neurological manifestations. Methods: We performed phenotypic characterization of six participants from four unrelated families presenting with a...

Uploaded on: February 14, 2024
September 11, 2023 (v1)

Journal article

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Androgenetic/biparental mosaicism in a diploid mole-like conceptus: report of a case with triple paternal contribution

Donzel, Marie Gaillot-Durand, Lucie Joubert, Madeleine

International audience

Uploaded on: October 26, 2024