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

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Abstract

A contiguous deletion encompassing the genes for dystrophin, cytochrome b(−245) β-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.

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Fig. 1

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Correspondence to Sibylle Jakubiczka.

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Jakubiczka, S., Bettecken, T., Mohnike, K. et al. Symptoms of OTC deficiency but not DMD in a female carrier of an Xp21.1 deletion including the genes for dystrophin and OTC . Eur J Pediatr 166, 743–745 (2007). https://doi.org/10.1007/s00431-006-0303-0

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Keywords

  • OTC deficiency
  • Deletion
  • Dystrophin gene