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

Author:

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

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference41 articles.

1. Thrombocytopenia with absent radius (TAR);Hall;Medicine,1969

2. Inherited thrombocytopenia: congenital amegakaryocytic thrombocytopenia and thrombocytopenia with absent radii;Geddis;Semin Hematol,2006

3. Thrombopoietin in patients with congenital thrombocytopenia and absent radii: elevated serum levels, normal receptor expression, but defective reactivity to thrombopoietin;Ballmaier;Blood,1997

4. Existence of a differentiation blockage at the stage of a megakaryocyte precursor in the thrombocytopenia and absent radii (TAR) syndrome;Letestu;Blood,2000

5. Thrombocytopenia-absent radius syndrome: a clinical genetic study;Greenhalgh;J Med Genet,2002

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