Ichthyosis prematurity syndrome in two Omani siblings, caused by homozygous c.1A > G mutation in the FATP4 gene

Volume: 60, Issue: 3, Pages: 368 - 371
Published: Dec 15, 2020
Abstract
Ichthyosis prematurity syndrome (IPS) is a rare type of syndromic autosomal recessive congenital ichthyosis (ARCI) caused by a mutation in the SLC27A4 gene that encodes the fatty acid transport protein 4 (FATP4), which is responsible for keratinocyte differentiation and skin barrier function. IPS is characterized by a triad of prematurity, perinatal respiratory asphyxia, and thick vernix caseosa‐like scales. In this report, we present the...
Paper Details
Title
Ichthyosis prematurity syndrome in two Omani siblings, caused by homozygous c.1A > G mutation in the FATP4 gene
Published Date
Dec 15, 2020
Volume
60
Issue
3
Pages
368 - 371
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