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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Библиографические подробности
Опубликовано в: :Clin Case Rep
Главные авторы: George, Renu, Santhanam, Sridhar, Samuel, Rekha, Chapla, Aaron, Hilmarsen, Hilde Tveitan, Braathen, Geir Julius, Reinholt, Finn P., Jahnsen, Frode, Khnykin, Denis
Формат: Artigo
Язык:Inglês
Опубликовано: John Wiley and Sons Inc. 2015
Предметы:
Case Reports
Online-ссылка: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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