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...

Descripción completa

Detalles Bibliográficos
Autores principales: George, Renu, Santhanam, Sridhar, Samuel, Rekha, Chapla, Aaron, Hilmarsen, Hilde Tveitan, Braathen, Geir Julius, Reinholt, Finn P., Jahnsen, Frode, Khnykin, Denis
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2015
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4706401/
https://www.ncbi.nlm.nih.gov/pubmed/26783444
http://dx.doi.org/10.1002/ccr3.462

Ejemplares similares

Ejemplares similares