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...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Clin Case Rep
Hauptverfasser: George, Renu, Santhanam, Sridhar, Samuel, Rekha, Chapla, Aaron, Hilmarsen, Hilde Tveitan, Braathen, Geir Julius, Reinholt, Finn P., Jahnsen, Frode, Khnykin, Denis
Format: Artigo
Sprache:Inglês
Veröffentlicht: John Wiley and Sons Inc. 2015
Schlagworte:
Case Reports
Online Zugang: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
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!

Ähnliche Einträge