Complex Inheritance Pattern Resembling Autosomal Recessive Inheritance Involving a Microdeletion in Thrombocytopenia–Absent Radius Syndrome

Thrombocytopenia–absent radius (TAR) syndrome is characterized by hypomegakaryocytic thrombocytopenia and bilateral radial aplasia in the presence of both thumbs. Other frequent associations are congenital heart disease and a high incidence of cow’s milk intolerance. Evidence for autosomal recessive...

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Asıl Yazarlar: Klopocki, Eva , Schulze, Harald , Strauß, Gabriele , Ott, Claus-Eric , Hall, Judith , Trotier, Fabienne , Fleischhauer, Silke , Greenhalgh, Lynn , Newbury-Ecob, Ruth A. , Neumann, Luitgard M. , Habenicht, Rolf , König, Rainer , Seemanova, Eva , Megarbane, André , Ropers, Hans-Hilger , Ullmann, Reinhard , Horn, Denise , Mundlos, Stefan 
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: The American Society of Human Genetics 2007
Konular:
Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC1785342/
https://ncbi.nlm.nih.gov/pubmed/17236129
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