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

Ichthyosis Prematurity Syndrome due to a Novel SLC27A4 Homozygous Mutation in an Italian Patient.

Acta dermato-venereologica - 29 Aug 2018

Diociaiuti Andrea, Rosati Enrico, Paglietti Maria Giovanna, Vacca Paola, Boldrini Renata, Pisaneschi Elisa, Castiglia Daniele, Novelli Antonio, El Hachem Maya

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 Biopsy
Share to Fatty Acid Transport Proteins
Share to Homozygote
Share to Ichthyosis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant

Share to Infant, Newborn

Share to Infant, Premature, Diseases

Source

Identifiers

PMID: 29701233
DOI: 10.2340/00015555-2957

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Ichthyosis Prematurity Syndrome due to a Novel SLC27A4 Homozygous Mutation in an Italian Patient.PMID 29701233Read ↗

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 ↗

Novel mutations in FATP4 gene in two families with ichthyosis prematurity syndrome.Semantic proximity Read ↗

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

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

Ichthyosis Prematurity Syndrome: From Fetus to Adulthood.Semantic proximity Read ↗

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

Morphological alterations in two siblings with autosomal recessive congenital ichthyosis associated with CYP4F22 mutations.Semantic proximity Read ↗

Clinical and molecular characteristics of autosomal recessive congenital ichthyosis in Thailand.Semantic proximity Read ↗

Autosomal recessive congenital ichthyosis and congenital hypothyroidism in a Tunisian patient with a nonsense mutation in TGM1.Semantic proximity Read ↗

Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia: Clinical Characteristics and Novel and Recurrent Mutations in 132 Patients.Semantic proximity Read ↗

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

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