title: Ichthyosis prematurity syndrome caused by a novel missense mutation in FATP4 gene-a case report from India.
abstract: 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.
authors.affiliation: Department of Dermatology Christian Medical College Vellore India.
authors.forename: Renu
authors.initials: R
authors.lastname: George
authors.affiliation: Department of Neonatology Christian Medical College Vellore India.
authors.forename: Sridhar
authors.initials: S
authors.lastname: Santhanam
authors.affiliation: Centre for Stem Cell Research Christian Medical College Vellore India.
authors.forename: Rekha
authors.initials: R
authors.lastname: Samuel
authors.affiliation: Department of Endocrinology Christian Medical College Vellore India.
authors.forename: Aaron
authors.initials: A
authors.lastname: Chapla
authors.affiliation: Section of Medical Genetics Department of Laboratory Medicine Telemark Hospital Skien Norway.
authors.forename: Hilde Tveitan
authors.initials: HT
authors.lastname: Hilmarsen
authors.affiliation: Section of Medical Genetics Department of Laboratory Medicine Telemark Hospital Skien Norway.
authors.forename: Geir Julius
authors.initials: GJ
authors.lastname: Braathen
authors.affiliation: Department of Pathology Oslo- University Hospital- Rikshospitalet Oslo Norway.
authors.forename: Finn P
authors.initials: FP
authors.lastname: Reinholt
authors.affiliation: Department of Pathology Oslo- University Hospital- Rikshospitalet Oslo Norway.
authors.forename: Frode
authors.initials: F
authors.lastname: Jahnsen
authors.affiliation: Department of Pathology Oslo- University Hospital- Rikshospitalet Oslo Norway; Department of Dermatology Oslo- University Hospital- Rikshospitalet Oslo Norway.
authors.forename: Denis
authors.initials: D
authors.lastname: Khnykin
keywords: FATP4; Indian patient; SLC27A4; novel sequence variant