Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes

European Journal of Medical Genetics

Volumn 54, Issue 2, 2011, Pages 157-160

  Schaefer, Elise ^a   Durand, Myriam ^a   Stoetzel, Corinne ^b   Doray, Bérénice ^a   Viville, Brigitte ^a   Hellé, Sophie ^b   Danse, Jean Marc ^b   Hamel, Christian ^c   Bitoun, Pierre ^d   Goldenberg, Alice ^e   Finck, Sonia ^f   Faivre, Laurence ^g   Sigaudy, Sabine ^h   Holder, Muriel ⁱ   Vincent, Marie Claire ^a   Marion, Vincent ^b   Bonneau, Dominique ^j   Verloes, Alain ^k   Nisand, Israël ^a   Mandel, Jean Louis ^l   Dollfus, Hélène ^a,b   more..

^a UNIVERSITY HOSPITAL OF STRASBOURG   (France)

^b INSERM   (France)

^c GUI DE CHAULIAC HOSPITAL   (France)

^d HÔPITAL JEAN VERDIER   (France)

^e HÔPITAL CHARLES NICOLLE   (France)

^f CHR   (France)

^g Medical University of Dijon   (France)

^h TIMONE HOSPITAL   (France)

ⁱ LILLE UNIVERSITY HOSPITAL   (France)

^j ANGERS UNIVERSITY HOSPITAL   (France)

^k HÔPITAL ROBERT DEBRÉ   (France)

^l l'alimentation et l'Environnement   (France)

more..

Author keywords

Bardet Biedl syndrome; Centrosome primary cilia; Hydrometrocolpos; Hypospadias; McKusick Kaufman syndrome; Polydactyly

Indexed keywords

ARTICLE; BARDET BIEDL SYNDROME; CLINICAL ARTICLE; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC COUNSELING; GENETIC HETEROGENEITY; GENOTYPE; HUMAN; HYDROMETROCOLPOS; LEARNING DISORDER; MCKUSICK KAUFMAN SYNDROME; MOLECULAR DIAGNOSIS; NEWBORN PERIOD; OBESITY; PHENOTYPE; POLYDACTYLY; PRENATAL PERIOD; PROGNOSIS; RETINITIS PIGMENTOSA; RETROSPECTIVE STUDY;

EID: 79952485329     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2010.10.004     Document Type: Article

References (15)

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