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Mutation analysis of theMKKSgene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients

✍ Scribed by A. Slavotinek; C. Searby; L. Al-Gazali; R. Hennekam; C. Schrander-Stumpel; M. Orcana-Losa; S. Pardo-Reoyo; A. Cantani; D. Kumar; Q. Capellini; G. Neri; E. Zackai; L. Biesecker


Book ID
106133694
Publisher
Springer
Year
2002
Tongue
English
Weight
90 KB
Volume
110
Category
Article
ISSN
0340-6717

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The Bardet-Biedl syndrome is an autosomal recessive disorder of polydactyly, obesity, tapetoretinal degeneration, mental retardation, hypogenitalism, and renal involvement. A high incidence of congenital and acquired heart disease was reported in the former "Laurence-Moon-Biedl-Bardet" syndrome. How