Article
The phenotype of ostensibly healthy women who are carriers for ornithine transcarbamylase deficiency.
Medicine - 1 Nov 1998
Maestri N E, Lord C, Glynn M, Bale A, Brusilow S W
Abstract excerpt
Ornithine transcarbamylase (OTC) deficiency is an X-linked disorder of urea synthesis. Among females who carry a mutant OTC allele, there is a wide range of phenotypic variability, ranging from apparent normality to a severe onset and the resulting profound neurologic impairment observed in hemizygous males. This study was designed to define the phenotypic variability of OTC deficiency in ostensibly healthy...
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