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Ichthyosis prematurity syndrome

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Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "Ichthyosis prematurity syndrome" returned 0 free, full-text review articles. First 0 results:
Ichthyosis prematurity syndrome: a case report and review of known mutations.
Last Updated: Jul 21, 2014

Ichthyosis prematurity syndrome (IPS; Mendelian Inheritance in Man 608649) is classified as a syndromic autosomal recessive ichthyosis. Here we describe two siblings with IPS and report a recurrent homozygous mutation (c.1430T>A) that is predicted to lead to a p.Val477Asp substitution ...

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Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Ichthyosis prematurity syndrome" returned 0 free, full-text editorial articles. First 0 results:
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Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "Ichthyosis prematurity syndrome" returned 6 free, full-text research articles. First few results:
[Ichthyosis prematurity syndrome: Two new cases].
Last Updated: Apr 08, 2019

Ichthyosis prematurity syndrome is a rare syndromic form of ichthyosis caused by mutations in FATP4, which plays a central role in the transport and activation of fatty acids in the epidermis and in epidermal barrier function. Despite stereotypical clinical presentation in the neonatal ...

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