Article
Parental mosaicism of JAG1 mutations in families with Alagille syndrome.
European journal of human genetics : EJHG - 1 Mar 2001
Giannakudis J, Röpke A, Kujat A, Krajewska-Walasek M, Hughes H, Fryns J P, Bankier A, Amor D, Schlicker M, Hansmann I
Abstract excerpt
The Alagille syndrome (AGS), a congenital disorder affecting liver, heart, skeleton and eye in association with a typical face, is an autosomal dominant disease with nearly complete penetrance and variable expression. AGS is caused by mutations in the developmentally important JAG1 gene. In our mutation screening, where 61 mutations in JAG1 were detected, we identified five cases where mosaicism is present. Our...
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