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- Title
Ichthyosis prematurity syndrome caused by a novel missense mutation in FATP4 gene-a case report from India.
- Authors
George, Renu; Santhanam, Sridhar; Samuel, Rekha; Chapla, Aaron; Hilmarsen, Hilde Tveitan; Braathen, Geir Julius; Reinholt, Finn P.; Jahnsen, Frode; Khnykin, Denis
- Abstract
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.
- Subjects
ICHTHYOSIS; KERATOSIS; DORFMAN-Chanarin syndrome; MISSENSE mutation; POINT mutation (Biology)
- Publication
Clinical Case Reports, 2016, Vol 4, Issue 1, p87
- ISSN
2050-0904
- Publication type
Article
- DOI
10.1002/ccr3.462