Three Mendelian disorders (chronic granulomatous disease, retinitis pigmentosa, ornithine transcarbamylase deficiency) in a young woman with an X chromosome deletion, del(X)(p11.4p21.1)
Mol Genet Metab
.
2010 Mar;99(3):329.
doi: 10.1016/j.ymgme.2009.11.006.
Epub 2009 Nov 27.
Authors
David Coman
,
Joy Yaplito-Lee
,
Phung La
,
Steven Nasioulas
,
Damien Bruno
,
Howard R Slater
,
Sharyn E Stock-Myer
,
Elly L Lynch
,
R J McKinlay Gardner
PMID:
20036594
DOI:
10.1016/j.ymgme.2009.11.006
No abstract available
Publication types
Case Reports
Letter
MeSH terms
Adult
Chromosome Deletion*
Chromosomes, Human, X / genetics*
Female
Granulomatous Disease, Chronic / genetics*
Humans
Ornithine Carbamoyltransferase Deficiency Disease / genetics*
Retinitis Pigmentosa / genetics*