Case Report: Whole exome sequencing helps in accurate...

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Case Report: Whole exome sequencing helps in accurate molecular diagnosis in siblings with a rare co-occurrence of paternally inherited 22q12 duplication and autosomal recessive non-syndromic ichthyosis.

Gupta, Aayush, Sharma, Yugal, Deo, Kirti, Vellarikkal, Shamsudheen, Jayarajan, Rijith, Dixit, Vishal, Verma, Ankit, Scaria, Vinod, Sivasubbu, Sridhar
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Language:
english
Journal:
F1000Research
DOI:
10.12688/f1000research.6779.1
Date:
July, 2015
File:
PDF, 1.23 MB
english, 2015
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