Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Novel mutations in FATP4 gene in two families with ichthyosis prematurity syndrome.

Journal of the European Academy of Dermatology and Venereology : JEADV - 1 Jan 2017

Bueno E, Cañueto J, García-Patos V, Vicente M Asunción, Bodet-Castillo D, Hernández-Ruíz M Eugenia, González-Sarmiento R

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Fatty Acid Transport Proteins
Share to Ichthyosis
Share to Infant, Newborn
Share to Infant, Premature, Diseases

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Mutation

Source

Identifiers

PMID: 27168232
DOI: 10.1111/jdv.13584

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 19 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel mutations in FATP4 gene in two families with ichthyosis prematurity syndrome.PMID 27168232Read ↗

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

Ichthyosis prematurity syndrome caused by a novel fatty acid transport protein 4 gene mutation in a German infant.Semantic proximity Read ↗

Ichthyosis prematurity syndrome: a case report and review of known mutations.Semantic proximity Read ↗

Ichthyosis Prematurity Syndrome due to a Novel SLC27A4 Homozygous Mutation in an Italian Patient.Semantic proximity Read ↗

Variants in NIPAL4 and ALOXE3 cause autosomal recessive congenital ichthyosis in Pakistani families.Semantic proximity Read ↗

Identification of Pathogenic Variants in CYP4F22, FLG, ALOX12B, and NIPAL4 in a Case Series of Inherited Ichthyosis.Semantic proximity Read ↗

Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosis.Semantic proximity Read ↗

Lamellar ichthyosis in a collodion baby caused by CYP4F22 mutations in a non-consanguineous family outside the Mediterranean.Semantic proximity Read ↗

A spontaneous Fatp4/Scl27a4 splice site mutation in a new murine model for congenital ichthyosis.Semantic proximity Read ↗

Novel Pathogenic Mutation of PNPLA1 Identified in Autosomal Recessive Congenital Ichthyosis: A Case Report.Semantic proximity Read ↗

A Japanese Case of Ichthyosiform Erythroderma with a Novel Mutation in NIPAL4/Ichthyin.Semantic proximity Read ↗

Expanding mutation landscape and phenotypic spectrum of autosomal recessive congenital ichthyosis.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.