Symptoms of OTC deficiency but not DMD in a female carrier of an Xp21.1 deletion including the genes for dystrophin and OTC.

Abstract	A contiguous deletion encompassing the genes for dystrophin, cytochrome b(-245) beta-subunit (CYBB), retinitis pigmentosa GTPase regulator (RPGR), and OTC was detected in a female patient only suffering from OTC deficiency while symptoms of the other conditions were not present.
Authors	Sibylle Jakubiczka, Thomas Bettecken, Klaus Mohnike, Reinhard Schneppenheim, Markus Stumm, Holger Tönnies, Marianne Volleth, Peter Wieacker
Journal	European journal of pediatrics (Eur J Pediatr) Vol. 166 Issue 7 Pg. 743-5 (Jul 2007) ISSN: 0340-6199 [Print] Germany
PMID	17091258 (Publication Type: Case Reports, Journal Article)
Chemical References	Dystrophin Eye Proteins Membrane Glycoproteins RPGR protein, human CYBB protein, human NADPH Oxidase 2 NADPH Oxidases
Topics	Child, Preschool Chromosomes, Human, X Dystrophin (genetics) Eye Proteins (genetics) Female Gene Deletion Heterozygote Humans Membrane Glycoproteins (genetics) NADPH Oxidase 2 NADPH Oxidases (genetics) Ornithine Carbamoyltransferase Deficiency Disease (diagnosis, genetics) Pedigree

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