Original paper
Ichthyosis prematurity syndrome caused by a novel missense mutation in FATP 4 gene‐a case report from India
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...
Paper Details
Title
Ichthyosis prematurity syndrome caused by a novel missense mutation in FATP 4 gene‐a case report from India
Published Date
Dec 1, 2015
Journal
Volume
4
Issue
1
Pages
87 - 89
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Notes
History