Associated Papers
Genetic testing and new variants in diagnosis of congenital ichthyoses.
Salo M et al.
Molecular Genetics & Genomic Medicine, 2024
Impacts of deletion and ichthyosis prematurity syndrome-associated mutations in fatty acid transport protein 4 on the function of RPE65.
Li S et al.
Febs Letters, 2020
Ichthyosis prematurity syndrome mimics keratitis-ichthyosis-deafness syndrome at birth: Use of electron microscopy and genetic testing.
Youssef MJ et al.
International Journal of Dermatology, 2016
Ichthyosis prematurity syndrome caused by a novel missense mutation in FATP4 gene-a case report from India.
George R et al.
Clinical Case Reports, 2016
A Novel SLC27A4 Splice Acceptor Site Mutation in Great Danes with Ichthyosis.
Metzger J et al.
Plos One, 2015
Identification of novel FATP4 mutations in a Japanese patient with ichthyosis prematurity syndrome.
Tsuge I et al.
Human Genome Variation, 2015
Ichthyosis prematurity syndrome with separation of fetal membranes and neonatal asphyxia.
Dereksson K et al.
Bmj Case Reports, 2012
A spontaneous Fatp4/Scl27a4 splice site mutation in a new murine model for congenital ichthyosis.
Tao J et al.
Plos One, 2012
FATP4 missense and nonsense mutations cause similar features in Ichthyosis Prematurity Syndrome.
Sobol M et al.
Bmc Research Notes, 2011
Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome.
Klar J et al.
American Journal of Human Genetics, 2009
Select a paper to view details