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 sequence variants in the LIPH and LPAR6 genes underlies autosomal recessive woolly hair/hypotrichosis in consanguineous families.

Congenital anomalies - 1 Jan 2018

Ahmad Farooq, Sharif Salma, Furqan Ubaid Muhammad, Shah Khadim, Khan Muhammad Nasim, Umair Muhammad, Azeem Zahid, Ahmad Wasim

Abstract excerpt

Autosomal-recessive woolly hair/hypotrichosis (ARWH/H) is a rare genetic disorder of hair caused by variants in the LIPH and LPAR6 genes. The disease is characterized by congenital tightly curled hair leading to sparse hair later in life. In the present report genetic characterization of three consanguineous families of Pakistani origin, displaying clinical features of ARWH/H, was performed. Haplotype and DNA...

Read the complete abstract on PubMed

Topics

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

Share to Consanguinity
Share to Family

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genes, Recessive

Share to Hair Diseases

Share to Hypotrichosis

Share to Lipase

Share to Pakistan

Source

Identifiers

PMID: 28425126
DOI: 10.1111/cga.12226

Genes

LIPH
LPAR6

Variants

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

Novel sequence variants in the LIPH and LPAR6 genes underlies autosomal recessive woolly hair/hypotrichosis in consanguineous families.PMID 28425126Read ↗

Mutations in the LPAR6 and LIPH genes underlie autosomal recessive hypotrichosis/woolly hair in 17 consanguineous families from Pakistan.Semantic proximity Read ↗

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

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

Identification of LIPH gene mutation in a consanguineous family segregating the woolly hair/hypotrichosis phenotype.Semantic proximity Read ↗

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

Mutations in the lipase-H gene causing autosomal recessive hypotrichosis and woolly hair.Semantic proximity Read ↗

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

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

A novel mutation in LPAR6 causes autosomal recessive hypotrichosis of the scalp.Semantic proximity Read ↗

Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families.Semantic proximity Read ↗

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 ↗

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 ↗

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