Literature DB >> 24891491

Thrombocytopaenia with absent radius (not radii).

Uday Yanamandra1, Kamal Kant Sahu1, Pankaj Malhotra1, Subhash Varma1.   

Abstract

Mesh：

Year:  2014        PMID： 24891491      PMCID： PMC4054107          DOI： 10.1136/bcr-2014-204844

Source DB:  PubMed          Journal:  BMJ Case Rep        ISSN： 1757-790X


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  3 in total

1.  Existence of a differentiation blockage at the stage of a megakaryocyte precursor in the thrombocytopenia and absent radii (TAR) syndrome.

Authors:  R Letestu; N Vitrat; A Massé; J P Le Couedic; V Lazar; P Rameau; F Wendling; J Vuillier; P Boutard; E Plouvier; M Plasse; R Favier; W Vainchenker; N Debili
Journal:  Blood       Date:  2000-03-01       Impact factor: 22.113

2.  Thrombocytopenia-absent radius syndrome: a clinical genetic study.

Authors:  K L Greenhalgh; R T Howell; A Bottani; P J Ancliff; H G Brunner; C C Verschuuren-Bemelmans; E Vernon; K W Brown; R A Newbury-Ecob
Journal:  J Med Genet       Date:  2002-12       Impact factor: 6.318

3.  Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome.

Authors:  Eva Klopocki; Harald Schulze; Gabriele Strauss; Claus-Eric Ott; Judith Hall; Fabienne Trotier; Silke Fleischhauer; Lynn Greenhalgh; Ruth A Newbury-Ecob; Luitgard M Neumann; Rolf Habenicht; Rainer König; Eva Seemanova; André Megarbane; Hans-Hilger Ropers; Reinhard Ullmann; Denise Horn; Stefan Mundlos
Journal:  Am J Hum Genet       Date:  2006-12-21       Impact factor: 11.025
  3 in total

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