title: 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).
authors.forename: David
authors.initials: D
authors.lastname: Coman
authors.forename: Joy
authors.initials: J
authors.lastname: Yaplito-Lee
authors.forename: Phung
authors.initials: P
authors.lastname: La
authors.forename: Steven
authors.initials: S
authors.lastname: Nasioulas
authors.forename: Damien
authors.initials: D
authors.lastname: Bruno
authors.forename: Howard R
authors.initials: HR
authors.lastname: Slater
authors.forename: Sharyn E
authors.initials: SE
authors.lastname: Stock-Myer
authors.forename: Elly L
authors.initials: EL
authors.lastname: Lynch
authors.forename: R J McKinlay
authors.initials: RJ
authors.lastname: Gardner
mesh_terms: 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*