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Am J Med Genet A


Title:Unilateral acheiria and fatal primary pulmonary hypertension in a girl with incontinentia pigmenti
Author(s):Hayes, I. M. Varigos, G. Upjohn, E. J. Orchard, D. C. Penny, D. J. Savarirayan, R.
Address:Genetic Health Services Victoria, MCRI, Parkville, Australia. lizmawson67@hotmail.com
Year:2005 Jun 15
Journal Title:Am J Med Genet A
Page Number:302-3
Language:eng
Volume:135
Issue:3
ISSN/ISBN:1552-4825 (Print). 1552-4825 (Linking)
Abstract:We describe a newborn girl with incontinentia pigmenti (IP, MIM308300), unilateral acheiria, and fatal primary pulmonary hypertension. Limb deficiency has not been described previously in IP and pulmonary hypertension only on two previous occasions. A review of the cause of IP shows that these rare manifestations may not be unexpected, given the many roles of the underlying gene product.

 
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