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Recurrent Williams-Beuren Syndrome in a Sibship Suggestive of Maternal Germ-Line Mosaicism

โœ Scribed by Ali Kara-Mostefa; Odile Raoul; Stanislas Lyonnet; Jeanne Amiel; Arnold Munnich; Michel Vekemans; Suzel Magnier; Batool Ossareh; Jean-Paul Bonnefont


Book ID
117852806
Publisher
American Society of Human Genetics
Year
1999
Tongue
English
Weight
256 KB
Volume
64
Category
Article
ISSN
0002-9297

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## Familial Adenomatous Polyposis (FAP) is an autosomal dominant heritable disorder caused by germ-line mutations in the APC gene. To date, more than 300 germ-line mutations within this gene have been described. Using PCR, SSCP and DNA sequencing, we have identified a new mutation in the alternativ