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 DIAGnostics - Clinical Research (professional requests)
 OMIM 274000: Thrombocytopenia-absent radius syndrome
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| Author | Topic: OMIM 274000: Thrombocytopenia-absent radius syndrome |
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FS Zollmann Administrator |
posted 10-26-1999 08:43 AM
  
http://www3.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?274000 We have seen a family in which inheritance appears to be autosomal dominant with reduced penetrance/variable expression. There are two clearly affected cousins, the mother of one has short-appearing forearms, as does the common grandmother. The father of the other cousin has no obvious phenotypic manifestations. Contact: Phone: 616-391-2700 Fax: 616-391-3114 IP: 160.45.191.21 |
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