Mutations in SDCCAG8/NPHP10 cause bardet-biedl syndrome and are associated with penetrant renal disease and absent polydactyly

Molecular Syndromology

Volumn 1, Issue 6, 2011, Pages 273-281

  Schaefer, E ^a   Zaloszyc, A ^a   Lauer, J ^a   Durand, M ^a   Stutzmann, F ^a   Perdomo Trujillo, Y ^b   Redin, C ^c   Bennouna Greene, V ^a   Toutain, A ^d   Perrin, L ^e   Gerard M ^e   Caillard, S ^b   Bei, X ^f   Lewis, R A ^g   Christmann, D ^b   Letsch, J ^b   Kribs, M ^h   Mutter, C ⁱ   Muller, J ^b,c   Stoetzel, C ^a   Fischbach, M ^b   Marion, V ^a   Katsanis, N ^f   Dollfus, H ^a,b   more..

^a UNIVERSITÉ DE STRASBOURG   (France)

^b UNIVERSITY HOSPITAL OF STRASBOURG   (France)

^c INSTITUT DE GÉNÉTIQUE ET DE BIOLOGIE MOLÉCULAIRE ET CELLULAIRE   (France)

^d UNIVERSITÉ DE TOURS   (France)

^e HÔPITAL ROBERT DEBRÉ   (France)

^f DUKE UNIVERSITY MEDICAL CENTER   (United States)

^g BAYLOR COLLEGE OF MEDICINE   (United States)

^h Centre Hospitalier Regional   (France)

ⁱ Université de Strasbourg   (France)

Author keywords

Bardet Biedl; Ciliopathy; Nephronophthisis; Polydactyly; SDCCAG8

Indexed keywords

ALLELE; ARTICLE; BARDET BIEDL SYNDROME; COGNITIVE DEFECT; GENE; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HYPOGONADISM; KIDNEY DISEASE; KIDNEY FAILURE; MAJOR CLINICAL STUDY; NPHP10 GENE; OBESITY; PHENOTYPE; POLYDACTYLY; PRIORITY JOURNAL; RETINA DEGENERATION; SCREENING; SDCCAG GENE;

EID: 80053188418     PISSN: 16618769     EISSN: 16618777     Source Type: Journal    
DOI: 10.1159/000331268     Document Type: Article

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