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

NSDHL Frameshift Deletion in a Mixed Breed Dog with Progressive Epidermal Nevi.

Genes - 30 Oct 2020

Christen Matthias, Austel Michaela, Banovic Frane, Jagannathan Vidhya, Leeb Tosso

Abstract excerpt

Loss-of-function variants in the NSDHL gene have been associated with epidermal nevi in humans with congenital hemidysplasia, ichthyosiform nevi, and limb defects (CHILD) syndrome and in companion animals. The NSDHL gene codes for the NAD(P)-dependent steroid dehydrogenase-like protein, which is involved in cholesterol biosynthesis. In this study, a female Chihuahua cross with a clinical and histological...

Read the complete abstract on PubMed

Topics

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

Share to 3-Hydroxysteroid Dehydrogenases
Share to Codon, Nonsense
Share to Dog Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heterozygote

Share to Limb Deformities, Congenital

Share to Mutation, Missense

Source

Open in PubMed Open full text

Identifiers

PMID: 33143176
DOI: 10.3390/genes11111297
PMCID: PMC7716214

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

NSDHL Frameshift Deletion in a Mixed Breed Dog with Progressive Epidermal Nevi.PMID 33143176Read ↗

A Large Deletion in the NSDHL Gene in Labrador Retrievers with a Congenital Cornification Disorder.Semantic proximity Read ↗

A Defect in NIPAL4 Is Associated with Autosomal Recessive Congenital Ichthyosis in American Bulldogs.Semantic proximity Read ↗

Novel variant in NSDHL gene associated with CHILD syndrome and syndactyly- a case report.Semantic proximity Read ↗

Neuronal Ceroid Lipofuscinosis-Like Disorder in a Dachshund with Sequence Variants in Lysosome-Related GenesSemantic proximity Read ↗

Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome.Semantic proximity Read ↗

Heterozygous DSP in-frame deletion in a poodle with syndromic ichthyosis involving additional hair and tooth abnormalities.Semantic proximity Read ↗

RNF170 frameshift deletion in Miniature American Shepherd dogs with neuroaxonal dystrophy provides a naturally occurring model for human RNF170 phenotypic spectrumSemantic proximity Read ↗

Novel NSDHL gene variant for congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) syndrome.Semantic proximity Read ↗

A de novo variant in the ASPRV1 gene in a dog with ichthyosis.Semantic proximity Read ↗

Mutations in KDSR Cause Recessive Progressive Symmetric Erythrokeratoderma.Semantic proximity Read ↗

Autosomal Recessive Congenital Ichthyosis in American Bulldogs Is Associated With NIPAL4 (ICHTHYIN) Deficiency.Semantic proximity Read ↗

SGCD Missense Variant in a Lagotto Romagnolo Dog with Autosomal Recessively Inherited Limb-Girdle Muscular Dystrophy.Semantic proximity Read ↗

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