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ICHTHYOSIS PREMATURITY SYNDROME

Known as: ICHTHYOSIS CONGENITA IV, IPS 
National Institutes of Health

Related topics

Related topics

4 relations
Aniridia renal agenesis psychomotor retardationIncontinentia pigmenti, familial male-lethal type

Broader (2)

IchthyosesInfant, Premature, Diseases

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2020
2020
[A new SLC27A4 mutation associated with ichthyosis prematurity syndrome and compartment syndrome].
2019
2019
Impacts of deletion and ichthyosis prematurity syndrome‐associated mutations in fatty acid transport protein 4 on the function of RPE65
The retinal pigment epithelium‐specific 65 kDa (RPE65) isomerase plays a pivotal role in photoreceptor survival and function… 
2017
2017
Understanding fetal factors that contribute to preterm birth: Sjögren-Larsson syndrome as a model
Abstract Aim: Preterm birth is the world’s leading cause of neonatal death. Unfortunately, the pathophysiology of preterm birth… 
2015
2015
Ichthyosis prematurity syndrome caused by a novel missense mutation in FATP4 gene‐a case report from India
Ichthyosis prematurity syndrome (IPS) is reported mainly from Scandinavia where most of the cases are homozygous or compound… 
2015
2015
Identification of novel FATP4 mutations in a Japanese patient with ichthyosis prematurity syndrome
Ichthyosis prematurity syndrome (IPS) is a rare autosomal recessive disorder characterized by prematurity, a thick caseous scale… 
2012
2012
Prenatal sonographic assessment and perinatal course of ichthyosis prematurity syndrome
All cases of ichthyosis prematurity syndrome (IPS), registered at the National Center for Fetal Medicine in Trondheim, Norway… 
2012
2012
Ichthyosis prematurity syndrome with separation of fetal membranes and neonatal asphyxia
Ichthyosis prematurity syndrome (IPS) is a rare inherited skin disorder. Children are born prematurely with thick skin and have… 
Review
2010
Review
2010
Pleomorphic ichthyosis: proposed name for a heterogeneous group of congenital ichthyoses with phenotypic shifting and mild residual scaling.
Congenital ichthyosis is often associated with typical neonatal phenotypes, "Collodion baby" and "Harlequin foetus", later… 
2006
2006
A founder mutation for ichthyosis prematurity syndrome restricted to 76 kb by haplotype association
AbstractAutosomal recessive congenital ichthyosis (ARCI) is a group of keratinisation disorders that includes the ichthyosis… 
2004
2004
Assignment of the locus for ichthyosis prematurity syndrome to chromosome 9q33.3–34.13
Autosomal recessive congenital ichthyosis (ARCI) is a clinically and genetically heterogeneous group of inherited disorders of… 
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