Complex management of a patient with a contiguous Xp11.4 gene deletion involving ornithine transcarbamylase: A role for detailed molecular analysis in complex presentations of classical diseases

Molecular Genetics and Metabolism

Volumn 94, Issue 4, 2008, Pages 498-502

  Deardorff, Matthew A ^a   Gaddipati, Himabindu ^a   Kaplan, Paige ^a   Sanchez Lara, Pedro A ^a   Sondheimer, Neal ^a   Spinner, Nancy B ^a   Hakonarson, Hakon ^a   Ficicioglu, Can ^a   Ganesh, Jaya ^a   Markello, Thomas ^b   Loechelt, Brett ^b   Zand, Dina J ^b   Yudkoff, Marc ^a   Lichter Konecki, Uta ^b  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^b CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

Author keywords

CGD; CGH; Chronic; Copy number analysis; Granulomatous disease; McLeod syndrome; Ornithine transcarbamylase; OTC; Retinitis pigmentosa; RP3; Xp11.4 Xp21.1 deletion

Indexed keywords

ORNITHINE CARBAMOYLTRANSFERASE;

ARTICLE; CASE REPORT; CLINICAL FEATURE; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; GENE DELETION; GENE LOCUS; GENOMICS; GRANULOMATOSIS; HUMAN; INFANT; MALE; MCLEOD SYNDROME; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RETINITIS PIGMENTOSA;

CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, X; FATAL OUTCOME; GENE DELETION; GENETIC DISEASES, X-LINKED; GRANULOMATOUS DISEASE, CHRONIC; HUMANS; INFANT; MALE; ORNITHINE CARBAMOYLTRANSFERASE; ORNITHINE CARBAMOYLTRANSFERASE DEFICIENCY DISEASE; RETINITIS PIGMENTOSA;

EID: 46749130431     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2008.04.011     Document Type: Article

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