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Clin Genet. 1990 Aug;38(2):155-9.

Sporadic late onset ornithine transcarbamylase deficiency in a boy with somatic mosaicism for an intragenic deletion.

Author information

1
Center for Human Genetics, University Hospital Gasthuisberg, Leuven, Belgium.

Abstract

Somatic mosaicism for a deletion in the ornithine transcarbamylase gene is described in a boy with sporadic late onset ornithine transcarbamylase deficiency. These findings are discussed in relation to the clinical picture of the patient and in relation to genetic counseling.

PMID:
2208768
[Indexed for MEDLINE]

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