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.

Lamellar ichthyosis (LI), considered an autosomal recessive monogenic genodermatosis, has an incidence of approximately 1 in 250,000. Usually associated with mutations in the transglutaminase gene ( TGM1), mutations in six other genes have, less frequently, been shown to be causative. Two siblings,...

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Detalhes bibliográficos
Publicado no:F1000Res
Principais autores: Gupta, Aayush, Sharma, Yugal, Deo, Kirti, Vellarikkal, Shamsudheen, Jayarajan, Rijith, Dixit, Vishal, Verma, Ankit, Scaria, Vinod, Sivasubbu, Sridhar
Formato: Artigo
Idioma:Inglês
Publicado em: F1000Research 2015
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4648218/
https://ncbi.nlm.nih.gov/pubmed/26594337
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.12688/f1000research.6779.1
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