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

Variants in NIPAL4 and ALOXE3 cause autosomal recessive congenital ichthyosis in Pakistani families.

Congenital anomalies - 1 Sept 2020

Akbar Abida, Bint-E-Farrakh Muneeba, Crosby Andrew H, Gul Asma, Harlalka Gaurav V

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 Amino Acid Substitution
Share to Consanguinity
Share to Family
Share to Genes, Recessive

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

Share to Ichthyosis, Lamellar

Share to Lipoxygenase

Share to Pakistan

Share to Receptors, Cell Surface

Source

Identifiers

PMID: 31883158
DOI: 10.1111/cga.12366

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 24 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

Variants in NIPAL4 and ALOXE3 cause autosomal recessive congenital ichthyosis in Pakistani families.PMID 31883158Read ↗

Manifestation of diffuse yellowish keratoderma on the palms and soles in autosomal recessive congenital ichthyosis patients may be indicative of mutations in NIPAL4.Semantic proximity Read ↗

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

Lamellar ichthyosis caused by a previously unreported homozygous ALOXE3 mutation in East Asia.Semantic proximity Read ↗

Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype-phenotype correlation.Semantic proximity Read ↗

Molecular epidemiology of non-syndromic autosomal recessive congenital ichthyosis in a Middle-Eastern population.Semantic proximity Read ↗

Congenital Ichthyosis and Recurrent Eczema Associated with a Novel ALOXE3 Mutation.Semantic proximity Read ↗

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

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

Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis.Semantic proximity Read ↗

Lamellar ichthyosis due to ALOX12B mutation.Semantic proximity Read ↗

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

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

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