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

Elise Schaefer,Myriam Durand,Corinne Stoetzel,Bérénice Doray,Brigitte Viville,Sophie Hellé,Jean-Marc Danse,Christian Hamel,Pierre Bitoun,Alice Goldenberg,Sonia Finck,Laurence Faivre,Sabine Sigaudy,Muriel Holder,Marie-Claire Vincent,Vincent Marion,Dominique Bonneau,Alain Verloes,Israël Nisand,Jean-Louis Mandel,Hélène Dollfus

European Journal of Medical Genetics（2011）

Cited 40|Views48
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Key words
McKusick–Kaufman syndrome,Bardet–Biedl syndrome,Hydrometrocolpos,Centrosome/primary cilia,Hypospadias,Polydactyly
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