Ichthyosis prematurity syndrome caused by a novel missense mutation in FATP4 gene‐a case report from India

Ichthyosis prematurity syndrome (IPS) is reported mainly from Scandinavia where most of the cases are homozygous or compound heterozygous for the nonsense mutation c.504C>A (p.Cys168*) in exon3 indicating a common ancestor for this mutation. The occurrence of IPS in an Indian patient suggests tha...

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發表在:Clin Case Rep
Main Authors: George, Renu, Santhanam, Sridhar, Samuel, Rekha, Chapla, Aaron, Hilmarsen, Hilde Tveitan, Braathen, Geir Julius, Reinholt, Finn P., Jahnsen, Frode, Khnykin, Denis
格式: Artigo
語言:Inglês
出版: John Wiley and Sons Inc. 2015
主題:
Case Reports
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC4706401/
https://ncbi.nlm.nih.gov/pubmed/26783444
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.462
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