Article
Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability.
American journal of medical genetics. Part A - 1 Jan 2008
Jongmans Marjolijn C J, Hoefsloot Lies H, van der Donk Kim P, Admiraal Ronald J, Magee Alex, van de Laar Ingrid, Hendriks Yvonne, Verheij Joke B G M, Walpole Ian, Brunner Han G, van Ravenswaaij Conny M A
Abstract excerpt
CHARGE syndrome is an autosomal dominant condition that is caused by mutations in the CHD7 gene. Few familial cases of this syndrome have been reported and these were characterized by a wide clinical variability. We here report on five CHD7 mutation positive families and comment on their clinical features. We observed somatic and germline mosaicism as well as parent-to-child transmission of non-mosaic CHD7...
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