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Am J Med Genet A. 2005 Jun 15;135(3):302-3.

Unilateral acheiria and fatal primary pulmonary hypertension in a girl with incontinentia pigmenti.

Author information

1
Genetic Health Services Victoria, MCRI, Parkville, Australia. lizmawson67@hotmail.com

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.

PMID:
15884011
DOI:
10.1002/ajmg.a.30698
[Indexed for MEDLINE]
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