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 Chinese hypotrichosis simplex patients associated with LSS gene.

The Journal of dermatology - 1 Mar 2021

Hua Shengyuan, Ding Yu, Zhang Jia, Qian Qiufang, Li Ming

Abstract excerpt

Hypotrichosis simplex (HS) is a rare form of hereditary alopecia caused by a variety of genetic mutations. Currently, only four studies regarding LSS-related HS have been reported. In this study, we try to make a definite diagnosis in two unrelated Chinese families with three pediatric patients clinically suspected of HS. Whole-exome sequencing (WES) was performed for these two families to reveal the pathogenic...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to China
Share to Exome Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hypotrichosis

Share to Intramolecular Transferases

Share to Mutation

Share to Pedigree

Share to Phenotype

Source

Identifiers

PMID: 33222230
DOI: 10.1111/1346-8138.15697

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel mutations in Chinese hypotrichosis simplex patients associated with LSS gene.PMID 33222230Read ↗

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 ↗

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

Novel LSS variants in alopecia and intellectual disability syndrome: New case report and clinical spectrum of LSS-related rare disease traits.Semantic proximity Read ↗

Update of recent findings in genetic hair disorders.Semantic proximity Read ↗

Expanding the genetic spectrum of tooth agenesis using whole-exome sequencing.Semantic proximity Read ↗

Great clinical variability of Nance Horan syndrome due to deleterious NHS mutations in two unrelated Spanish families.Semantic proximity Read ↗

Genetic variants and mutational spectrum of Chinese Hermansky-Pudlak syndrome patients.Semantic proximity Read ↗

Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes.Semantic proximity Read ↗

Two novel SASH1 mutations in Chinese families with dyschromatosis universalis hereditaria.Semantic proximity Read ↗

Novel HPS6 mutations identified by whole-exome sequencing in two Japanese sisters with suspected ocular albinism.Semantic proximity Read ↗

Identification of Novel Variants in the NHS in Four Turkish Patients With Nance-Horan Syndrome.Semantic proximity Read ↗

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