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Ichthyosis prematurity syndrome caused by a novel missense mutation in FATP4 gene-a case report from India.
- Source :
-
Clinical case reports [Clin Case Rep] 2015 Dec 01; Vol. 4 (1), pp. 87-9. Date of Electronic Publication: 2015 Dec 01 (Print Publication: 2016). - Publication Year :
- 2015
-
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.
Details
- Language :
- English
- ISSN :
- 2050-0904
- Volume :
- 4
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- Clinical case reports
- Publication Type :
- Report
- Accession number :
- 26783444
- Full Text :
- https://doi.org/10.1002/ccr3.462