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