Expanding the clinical spectrum of recessive truncating mutations of to a Bohring-Opitz-like phenotype.
Fiche publication
Date publication
décembre 2017
Journal
Journal of medical genetics
Auteurs
Membres identifiés du Cancéropôle Est :
Pr FAIVRE Laurence
Tous les auteurs :
Bruel AL, Bigoni S, Kennedy J, Whiteford M, Buxton C, Parmeggiani G, Wherlock M, Woodward G, Greenslade M, Williams M, St-Onge J, Ferlini A, Garani G, Ballardini E, van Bon BW, Acuna-Hidalgo R, Bohring A, Deleuze JF, Boland A, Meyer V, Olaso R, Ginglinger E, Study D, Rivière JB, Brunner HG, Hoischen A, Newbury-Ecob R, Faivre L, Thauvin-Robinet C, Thevenon J
Lien Pubmed
Résumé
Bohring-Opitz syndrome (BOS) is a rare genetic disorder characterised by a recognisable craniofacial appearance and a typical 'BOS' posture. BOS is caused by sporadic mutations of. However, several typical patients with BOS have no molecular diagnosis, suggesting clinical and genetic heterogeneity.
Mots clés
Autoantigens, genetics, Brain, abnormalities, Child, Preschool, Craniosynostoses, diagnosis, Facies, Female, Genes, Recessive, Genetic Association Studies, Humans, Infant, Intellectual Disability, diagnosis, Magnetic Resonance Imaging, Male, Mutation, Phenotype, Young Adult
Référence
J. Med. Genet.. 2017 Dec;54(12):830-835