Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicate in leukemia-related JAK-STAT pathway.

Date publication

novembre 2022

Journal

European journal of medical genetics

Auteurs

Membres identifiés du Cancéropôle Est :
Pr FAIVRE Laurence , Pr PHILIPPE Christophe , Mr DUFFOURD Yannis , Pr THAUVIN-ROBINET Christel , Pr KUENTZ Paul

Tous les auteurs :
Delanne J, Lecat M, Blackburn PR, Klee E, Stumpel C, Stegmann S, Stevens SJC, Nava C, Heron D, Keren B, Mahida S, Naidu S, Babovic-Vuksanovic D, Herkert JC, Torring PM, Kibæk M, De Bie I, Pfundt R, Hendriks YMC, Ousager LB, Bend R, Warren H, Skinner S, Lyons M, Poe C, Chevarin M, Jouan T, Garde A, Thomas Q, Kuentz P, Tisserant E, Duffourd Y, Philippe C, Faivre L, Thauvin-Robinet C

Lien Pubmed

https://www.ncbi.nlm.nih.gov/pubmed/36414205

Résumé

Since the first description of a BRWD3-related phenotype in 2007, 21 additional families have been reported with intellectual disability (ID).

Mots clés

BRWD3, Intellectual disability, Macrocephaly, Obesity

Référence

Eur J Med Genet. 2022 11 19;:104670