期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 135A, 期 3, 页码 302-303出版社
WILEY
DOI: 10.1002/ajmg.a.30698
关键词
incontinentia pigmenti; pulmonary hypertension; limb abnormality; NF-kappaB; NEMO
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 [Triki et al., 1992; Miteva et al., 2001]. 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. (c) 2005 Wiley-Liss, Inc.
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