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  OMIM 274000: Thrombocytopenia-absent radius syndrome

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

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.

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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