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  OMIM 274000: Thrombocytopenia-absent radius syndrome

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Author Topic:   OMIM 274000: Thrombocytopenia-absent radius syndrome
FS Zollmann
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posted 10-26-1999 08:43 AM     Click Here to See the Profile for FS Zollmann     Edit/Delete Message Reply w/Quote
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.

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Helga V. Toriello, Ph.D.
Genetics Services
21 MIchigan St., Suite 465
Grand Rapids, MI 49503 USA

Phone: 616-391-2700 Fax: 616-391-3114
Email: helga.toriello@spectrum-health.org

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