OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment.

Thauvin-Robinet, C; Thomas, S; Sinico, M; Aral, B; Burglen, L; Gigot, N; Dollfus, H; Rossignol, S; Raynaud, M; Philippe, C; Badens, C; Touraine, R; Gomes, C; Franco, B; Lopez, E; Elkhartoufi, N; Faivre, L; Munnich, A; Boddaert, N; Van Maldergem, L; Encha-Razavi, F; Lyonnet, S; Vekemans, M; Escudier, E; Attié-Bitach, T

Thauvin-Robinet, C; Thomas, S; Sinico, M; Aral, B; Burglen, L; Gigot, N; Dollfus, H; Rossignol, S; Raynaud, M; Philippe, C; Badens, C; Touraine, R; Gomes, C; Franco, B; Lopez, E; Elkhartoufi, N; Faivre, L; Munnich, A; Boddaert, N; Van Maldergem, L; Encha-Razavi, F; Lyonnet, S; Vekemans, M; Escudier, E; Attié-Bitach, T.

Clin Genet ; 84(1): 86-90, 2013 Jul.

Article in En | MEDLINE | ID: mdl-23036093

Subject(s)

Abnormalities, Multiple/genetics; Basal Bodies/pathology; Cerebellar Diseases/genetics; Cilia/pathology; Eye Abnormalities/genetics; Genetic Diseases, X-Linked/genetics; Kidney Diseases, Cystic/genetics; Mutation; Orofaciodigital Syndromes/genetics; Proteins/genetics; Retina/abnormalities; Abnormalities, Multiple/pathology; Adolescent; Basal Bodies/metabolism; Cerebellar Diseases/pathology; Cerebellum/abnormalities; Child; Child, Preschool; Cilia/metabolism; Eye Abnormalities/pathology; Genetic Diseases, X-Linked/pathology; Genotype; Humans; Infant, Newborn; Kidney Diseases, Cystic/pathology; Male; Orofaciodigital Syndromes/pathology; Phenotype; Retina/pathology; Young Adult

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Full text: 1 Database: MEDLINE Main subject: Orofaciodigital Syndromes / Retina / Abnormalities, Multiple / Proteins / Cerebellar Diseases / Eye Abnormalities / Cilia / Genetic Diseases, X-Linked / Kidney Diseases, Cystic / Basal Bodies Limits: Adolescent / Adult / Child / Child, preschool / Humans / Male / Newborn Language: En Journal: Clin Genet Year: 2013 Type: Article

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