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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Bibliografske podrobnosti
izdano v: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
Format: Artigo
Jezik:Inglês
Izdano: John Wiley and Sons Inc. 2015
Teme:
Case Reports
Online dostop: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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