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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Vydáno v:Clin Case Rep
Hlavní autoři: George, Renu, Santhanam, Sridhar, Samuel, Rekha, Chapla, Aaron, Hilmarsen, Hilde Tveitan, Braathen, Geir Julius, Reinholt, Finn P., Jahnsen, Frode, Khnykin, Denis
Médium: Artigo
Jazyk:Inglês
Vydáno: John Wiley and Sons Inc. 2015
Témata:
Case Reports
On-line přístup: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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