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

Two cases of autosomal recessive woolly hair with LIPH gene mutations.

International journal of dermatology - 1 May 2013

Harada Kazutoshi, Inozume Takashi, Kawamura Tatsuyoshi, Shibagaki Naotaka, Kinoshita Tomoko, Deguchi Nobuhiro, Shimada Shinji

Abstract excerpt

BACKGROUND: Woolly hair is a hereditary disorder characterized by fine and tightly curled hair. Autosomal recessive woolly hair (ARWH) was recently determined to result from mutations in either the lipase H (LIPH) or the LPAR6 (P2RY5) gene. CASE REPORT: An 8-year-old boy (proband) and his 11-year-old brother presented with tightly coiled and sparse scalp hair. The boys did not have cardiomyopathy, palmoplantar...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Hair
Share to Hair Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Homozygote

Share to Lipase

Share to Mutation

Share to Sequence Analysis, DNA

Source

Identifiers

PMID: 23590372
DOI: 10.1111/j.1365-4632.2012.05775.x

Genes

LIPH
LPAR6

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

Two cases of autosomal recessive woolly hair with LIPH gene mutations.PMID 23590372Read ↗

Novel mutations in the lipase H gene lead to secretion defects of LIPH in Chinese patients with autosomal recessive woolly hair/hypotrichosis (ARWH/HT).Semantic proximity Read ↗

Novel small-insertion mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis.Semantic proximity Read ↗

Expression studies of a novel splice site mutation in the LIPH gene identified in a Japanese patient with autosomal recessive woolly hair.Semantic proximity Read ↗

Prevalent founder mutation c.736T>A of LIPH in autosomal recessive woolly hair of Japanese leads to variable severity of hypotrichosis in adulthood.Semantic proximity Read ↗

Mutations in LPAR6/P2RY5 and LIPH are associated with woolly hair and/or hypotrichosis.Semantic proximity Read ↗

Case of autosomal recessive woolly hair/hypotrichosis with compound heterozygous mutations in the LIPH gene at c.742C > A and c.614A > G: The first Japanese case.Semantic proximity Read ↗

Mutations in the lipase H gene underlie autosomal recessive woolly hair/hypotrichosis.Semantic proximity Read ↗

Isolated autosomal recessive woolly hair/hypotrichosis: genetics, pathogenesis and therapies.Semantic proximity Read ↗

Founder mutations in the lipase h gene in families with autosomal recessive woolly hair/hypotrichosis.Semantic proximity Read ↗

Analysis of unique mutations in the LPAR6 gene identified in a Japanese family with autosomal recessive woolly hair/hypotrichosis: Establishment of a useful assay system for LPA6.Semantic proximity Read ↗

Identification of 736T>A mutation of lipase H in Japanese siblings with autosomal recessive woolly hair.Semantic proximity Read ↗

Novel sequence variants in the LIPH and LPAR6 genes underlies autosomal recessive woolly hair/hypotrichosis in consanguineous families.Semantic proximity Read ↗

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