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

An autosomal dominant triphalangeal thumb: polysyndactyly syndrome with variable expression in a large Indian family maps to 7q36.

American journal of medical genetics - 11 Dec 1996

Radhakrishna U, Blouin J L, Solanki J V, Dhoriani G M, Antonarakis S E

Abstract excerpt

Hereditary developmental abnormalities of the upper or lower limbs in humans are easily recognizable phenotypes that can be used in the mapping and cloning of genes involved in normal human development. We studied a large Indian pedigree (UR002) with an autosomal dominant triphalangeal thumb (TPT...

Topics

Chromosome Aberrations
Chromosome Disorders
Chromosomes, Human, Pair 7
Female
Genetic Linkage
Humans
Indians, North American
Lod Score
Male
Pedigree
Phenotype
Polydactyly

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Polymorphism, Genetic

Syndactyly

Thumb

Source

Identifiers

PMID: 8958333
DOI: 10.1002/(SICI)1096-8628(19961211)66:2<209::AID-AJMG17>3.0.CO;2-X

Genes

PSD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8958333-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

An autosomal dominant triphalangeal thumb: polysyndactyly syndrome with variable expression in a large Indian family maps to 7q36.PMID 8958333Read ↗

Phenotypic variability of triphalangeal thumb-polysyndactyly syndrome linked to chromosome 7q36.Semantic proximity Read ↗

Homozygous feature of isolated triphalangeal thumb-preaxial polydactyly linked to 7q36: no phenotypic difference between homozygotes and heterozygotes.Semantic proximity Read ↗

Clinical and genetic studies on 12 preaxial polydactyly families and refinement of the localisation of the gene responsible to a 1.9 cM region on chromosome 7q36.Semantic proximity Read ↗

Mutation analysis of a Chinese pedigree with triphalangeal thumb-polysyndactyly syndrome.Semantic proximity Read ↗

Linkage of preaxial polydactyly type 2 to 7q36.Semantic proximity Read ↗

Large duplication in LMBR1 gene in a large Chinese pedigree with triphalangeal thumb polysyndactyly syndrome.Semantic proximity Read ↗

A complex bilateral polysyndactyly disease locus maps to chromosome 7q36.Semantic proximity Read ↗

Phenotypic analysis of triphalangeal thumb and associated hand malformations.Semantic proximity Read ↗

A syndactyly type IV locus maps to 7q36.Semantic proximity Read ↗

Identity-by-descent refines mapping of candidate regions for preaxial polydactyly in a large Chinese pedigreeSemantic proximity Read ↗

Identity-by-descent refines mapping of candidate regions for preaxial polydactyly II /III in a large Chinese pedigree.Semantic proximity Read ↗

Prenatal diagnosis identifies compound heterozygous variants in PKDCC that causes Rhizomelic Limb Shortening with Dysmorphic Features in a Chinese fetusSemantic proximity Read ↗

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