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

Amish brittle hair syndrome gene maps to 7p14.1.

American journal of medical genetics. Part A - 30 Apr 2005

Seboun Eric, Lemainque Arnaud, Jackson Charles E

Abstract excerpt

The brittle hair syndrome (BHS) is characterized by short stature, intellectual impairment, brittle hair, and decreased fertility in 20 members from a large Amish consanguineous kindred previously reported affected with this syndrome. We mapped the BHS gene by genome scan to chromosome 7p14.1. Evidence of linkage was supported by a maximum multipoint LOD score of 6 obtained with GENEHUNTER for the linkage...

Read the complete abstract on PubMed

Topics

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

Share to Abnormalities, Multiple
Share to Chromosomes, Human, Pair 7
Share to Consanguinity

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Family Health

Share to Growth Disorders

Share to Infertility

Share to Lod Score

Source

Identifiers

PMID: 15723315
DOI: 10.1002/ajmg.a.30615

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Amish brittle hair syndrome gene maps to 7p14.1.PMID 15723315Read ↗

Autosomal-dominant hypotrichosis with woolly hair: Novel gene locus on chromosome 4q35.1-q35.2.Semantic proximity Read ↗

Refinement of a locus for Marie Unna hereditary hypotrichosis to a 1.1-cM interval at 8p21.3.Semantic proximity Read ↗

Marie Unna hereditary hypotrichosis: report of a Chinese family and evidence for genetic heterogeneity.Semantic proximity Read ↗

Human chromosome 7: DNA sequence and biology.Semantic proximity Read ↗

Desmoglein 4 mutations underlie localized autosomal recessive hypotrichosis in humans, mice, and rats.Semantic proximity Read ↗

A gene responsible for Ghosal hemato-diaphyseal dysplasia maps to chromosome 7q33-34.Semantic proximity Read ↗

A large duplication in LIPH underlies autosomal recessive hypotrichosis simplex in four Middle Eastern families.Semantic proximity Read ↗

An autosomal dominant form of hereditary hypotrichosis simplex maps to 18p11.32-p11.23 in an Italian family.Semantic proximity Read ↗

Fine mapping of the split-hand/split-foot locus (SHFM3) at 10q24: evidence for anticipation and segregation distortion.Semantic proximity Read ↗

Genome-wide association scan suggests basis for microtia in Awassi sheep.Semantic proximity Read ↗

Identification of a novel 15.5 kb SHOX deletion associated with marked intrafamilial phenotypic variability and analysis of its molecular origin.Semantic proximity Read ↗

The CEPH consortium linkage map of human chromosome 1.Semantic proximity Read ↗

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