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

Answering a century old riddle: brachydactyly type A1.

Cell research - 1 Jun 2004

Gao Bo, He Lin

Abstract excerpt

In 1903, Farabee analyzed the heredity of the human digital malformation, brachydactyly, the first recorded disorder of the autosomal dominant Mendelian trait. In 1951, Bell classified this type of brachydactyly as type A1 (BDA1). Over 100 cases from different ethnic groups have so far been reported. However, the real breakthrough in identifying the cause of BDA1 has only taken place in the last few years with...

Read the complete abstract on PubMed

Topics

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

Share to Fingers
Share to Chromosomes, Human, Pair 2
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Hand Deformities, Congenital

Share to Hedgehog Proteins

Share to Protein Structure, Tertiary

Share to Signal Transduction

Share to Trans-Activators

Source

Identifiers

PMID: 15225411
DOI: 10.1038/sj.cr.7290218

Genes

IHH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Answering a century old riddle: brachydactyly type A1.PMID 15225411Read ↗

A novel mutation in the IHH gene causes brachydactyly type A1: a 95-year-old mystery resolved.Semantic proximity Read ↗

A novel variant of IHH in a Chinese family with brachydactyly type 1Semantic proximity Read ↗

Mild brachydactyly type A1 maps to chromosome 2q35-q36 and is caused by a novel IHH mutation in a three generation family.Semantic proximity Read ↗

A novel variant of IHH in a Chinese family with brachydactyly type 1.Semantic proximity Read ↗

[Brachydactyly and the molecular mechanisms of digit formation].Semantic proximity Read ↗

Prenatal diagnosis of a family affected by brachydactyly type A1 with a mutation in IHH: a useful lesson.Semantic proximity Read ↗

[Clinical investigation of a family with brachydactyly type A1 and the identification of the disease gene].Semantic proximity Read ↗

BMPR1B gene in brachydactyly type 2-A family with de novo R486W mutation and a disease phenotype.Semantic proximity Read ↗

A locus for brachydactyly type A-1 maps to chromosome 2q35-q36.Semantic proximity Read ↗

A novel heterozygous mutation in the Indian hedgehog gene (IHH) is associated with brachydactyly type A1 in a Chinese family.Semantic proximity Read ↗

A novel heterozygous mutation in PTHLH causing autosomal dominant brachydactyly type E complicated with short stature.Semantic proximity Read ↗

Brachydactyly type A1 associated with unusual radiological findings and a novel Arg158Cys mutation in the Indian hedgehog (IHH) gene.Semantic proximity Read ↗

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