z-logo
open-access-imgOpen Access
Ichthyosis prematurity syndrome caused by a novel missense mutation in FATP 4 gene‐a case report from India
Author(s) -
George Renu,
Santhanam Sridhar,
Samuel Rekha,
Chapla Aaron,
Hilmarsen Hilde Tveitan,
Braathen Geir Julius,
Reinholt Finn P.,
Jahnsen Frode,
Khnykin Denis
Publication year - 2016
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.462
Subject(s) - missense mutation , medicine , nonsense mutation , nonsense , congenital ichthyosis , ichthyosis , mutation , genetics , gene , dermatology , biology
Key Clinical Message 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 that it is more widespread than previously reported.

The content you want is available to Zendy users.

Already have an account? Click here to sign in.
Having issues? You can contact us here