Sporadic late onset ornithine transcarbamylase def...[Clin Genet. 1990]

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

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

Legius E, Baten E, Stul M, Marynen P, Cassiman JJ.

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

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 [PubMed - indexed for MEDLINE]

Mosaicism for an intragenic deletion in a boy with mild ornithine transcarbamylase deficiency.
N Engl J Med. 1988 Oct 13; 319(15):999-1003.

[N Engl J Med. 1988]
Ornithine transcarbamylase (OTC) deficiency in a female patient with a de nova deletion of the paternal X chromosome.
Hum Genet. 1992 Aug; 89(6):632-4.

[Hum Genet. 1992]
[Genetic counseling in ornithine carbamoyltransferase deficiency]
Ann Biol Clin (Paris). 1988; 46(7):455-9.

[Ann Biol Clin (Paris). 1988]
Review[Congenital deficiency of ornithine transcarbamylase. Description of 2 clinical cases]
Minerva Pediatr. 1983 Mar 15; 35(5):219-24.

[Minerva Pediatr. 1983]
ReviewThe role of orthotopic liver transplantation in the treatment of ornithine transcarbamylase deficiency.
Liver Transpl Surg. 1998 Sep; 4(5):350-4.

[Liver Transpl Surg. 1998]
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Cited by 1 PubMed Central article

Parental somatic and germ-line mosaicism for a multiexon deletion with unusual endpoints in a type III collagen (COL3A1) allele produces Ehlers-Danlos syndrome type IV in the heterozygous offspring.
Milewicz DM, Witz AM, Smith AC, Manchester DK, Waldstein G, Byers PH. Am J Hum Genet. 1993 Jul; 53(1):62-70.

[Am J Hum Genet. 1993]

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