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Chanarin Dorfman syndrome: a case report with novel nonsense mutation

Neerja Gupta1, Sunil Gothwal1, Amit Kumar Satpathy1

  • 1Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.

Gene
|September 10, 2015
PubMed

Keywords:
ABHD5 mutationChanarin Dorfman syndromeIchthyosisLipid storage disorderLiver involvement

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