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).
Coman
David
D
Yaplito-Lee
Joy
J
La
Phung
P
Nasioulas
Steven
S
Bruno
Damien
D
Slater
Howard R
HR
Stock-Myer
Sharyn E
SE
Lynch
Elly L
EL
Gardner
R J McKinlay
RJ
D000328:Adult; D002872:Chromosome Deletion; D041321:Chromosomes, Human, X / Q000235:genetics*; D005260:Female; D006105:Granulomatous Disease, Chronic / Q000235:genetics*; D006801:Humans; D020163:Ornithine Carbamoyltransferase Deficiency Disease / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000235:genetics*