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Eur J Pediatr. 2007 Jul;166(7):743-5. Epub 2006 Nov 8.

Symptoms of OTC deficiency but not DMD in a female carrier of an Xp21.1 deletion including the genes for dystrophin and OTC.

Author information

1
Institut für Humangenetik, Otto-von-Guericke-Universität, Leipziger Str. 44, 39120 Magdeburg, Germany. sibylle.jakubiczka@medizin.uni-magdeburg.de

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.

PMID:
17091258
DOI:
10.1007/s00431-006-0303-0
[Indexed for MEDLINE]

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