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.
MeSH terms
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Child, Preschool
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Chromosomes, Human, X*
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Dystrophin / genetics*
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Eye Proteins / genetics
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Female
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Gene Deletion*
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Heterozygote*
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Humans
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Membrane Glycoproteins / genetics
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NADPH Oxidase 2
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NADPH Oxidases / genetics
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Ornithine Carbamoyltransferase Deficiency Disease / diagnosis*
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Ornithine Carbamoyltransferase Deficiency Disease / genetics
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Pedigree
Substances
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Dystrophin
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Eye Proteins
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Membrane Glycoproteins
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RPGR protein, human
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CYBB protein, human
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NADPH Oxidase 2
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NADPH Oxidases