Bardet-Biedl syndrome;Le syndrome de Bardet-Biedl

Annales d'Endocrinologie

Volumn 69, Issue 6, 2008, Pages 463-471

  Rooryck, C ^a,b   Lacombe, D ^a,b  

^a UNIVERSITÉ DE BORDEAUX   (France)

^b HÔPITAL PELLEGRIN   (France)

Author keywords

Bardet Biedl syndrome; BBS gene; Ciliopathy; Mental disability; Multicystic kidneys; Obesity; Oligogenism; Pigmentary retinopathy; Primary cilia; Rod cone dystrophy; Triallelic inheritance

Indexed keywords

BARDET BIEDL SYNDROME; CLINICAL FEATURE; EUKARYOTIC FLAGELLUM; HUMAN; HYPOGONADISM; KIDNEY POLYCYSTIC DISEASE; LEARNING DISORDER; MENTAL DEFICIENCY; OBESITY; PHENOTYPE; POLYDACTYLY; RETINA DYSTROPHY; RETINOPATHY; SHORT SURVEY;

EID: 57049134594     PISSN: 00034266     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ando.2008.10.001     Document Type: Short Survey

References (42)

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