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

Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2

9 Apr 2022

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 Cholesterol and Lipid Metabolism
Share to Plant biochemistry and biosynthesis
Share to Skin and Cellular Biology Research

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 35413293
DOI: 10.1016/j.jid.2022.03.023

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2PMID 35413293Read ↗

Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndromeSemantic proximity Read ↗

Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis SimplexSemantic proximity Read ↗

Biallelic mutations in LSS in autosomal-recessive mutilating palmoplantar keratoderma.Semantic proximity Read ↗

Novel biallelic LSS variants in autosomal recessive hypotrichosis simplex: insights from a multi-omics approach.Semantic proximity Read ↗

Hypotrichosis 14: Novel variants of the LSS gene in five Chinese families and insights from literature reviewSemantic proximity Read ↗

Familial hypomelanosis of Ito: Implications for genetic counsellingSemantic proximity Read ↗

Congenital cataract with LSS gene mutations: a new case report.Semantic proximity Read ↗

Punctate palmoplantar keratoderma type 1 with a novel AAGAB frameshift mutation: intrafamilial phenotype variation due to ageing.Semantic proximity Read ↗

Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice.Semantic proximity Read ↗

Identification of cathepsin C mutations in ethnically diverse papillon-Lefèvre syndrome patients.Semantic proximity Read ↗

Sjögren-Larsson syndrome: phenotypic variability in two brothers with a neurocutaneous disorder.Semantic proximity Read ↗

Two cases of severe congenital hypotrichosis caused by compound heterozygous mutations in the LSS gene.Semantic proximity Read ↗

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