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

Mesoaxial complete syndactyly and synostosis with hypoplastic thumbs: an unusual combination or homozygous expression of syndactyly type I?

Journal of medical genetics - 1 Oct 1998

Percin E F, Percin S, Egilmez H, Sezgin I, Ozbas F, Akarsu A N

Abstract excerpt

Syndactyly type I is an autosomal dominant condition with complete or partial webbing between the third and fourth fingers or the second and third toes or both. We report here a previously undescribed phenotype of severe mesoaxial syndactyly and synostosis in patients born to affected parents. The characteristic features of these severe cases are (1) complete syndactyly and synostosis of the third and fourth...

Read the complete abstract on PubMed

Topics

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

Share to Child, Preschool
Share to Genetic Linkage

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

Share to Homeodomain Proteins

Share to Homozygote

Share to Lod Score

Share to Pedigree

Share to Phenotype

Share to Polymorphism, Single-Stranded Conformational

Source

Open in PubMed Open full text

Identifiers

PMID: 9783716
DOI: 10.1136/jmg.35.10.868
PMCID: PMC1051468

Genes

HOXD13

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

Mesoaxial complete syndactyly and synostosis with hypoplastic thumbs: an unusual combination or homozygous expression of syndactyly type I?PMID 9783716Read ↗

Syndactyly: phenotypes, genetics and current classification.Semantic proximity Read ↗

A large Turkish kindred with syndactyly type II (synpolydactyly). 2. Homozygous phenotype?Semantic proximity Read ↗

Genetic determinants of syndactyly: perspectives on pathogenesis and diagnosisSemantic proximity Read ↗

Polydactyly: phenotypes, genetics and classification.Semantic proximity Read ↗

Evidence for clinical and genetic heterogeneity of syndactyly type I: the phenotype of second and third toe syndactyly maps to chromosome 3p21.31.Semantic proximity Read ↗

Genetics of Limb Development and Congenital Hand MalformationsSemantic proximity Read ↗

Polydactyly: Clinical and molecular manifestationsSemantic proximity Read ↗

Joining the fingers: a HOXD13 Story.Semantic proximity Read ↗

A Review of the Phenotype of Synpolydactyly Type 1 in Homozygous Patients: Defining the Relatively Long and Medially Deviated Big Toe with/without Cupping of the Forefoot as a Pathognomonic Feature in the Phenotype.Semantic proximity Read ↗

Kniest dysplasia is caused by dominant collagen II (COL2A1) mutations: parental somatic mosaicism manifesting as Stickler phenotype and mild spondyloepiphyseal dysplasia.Semantic proximity Read ↗

Limb skeletal malformations - what the HOX is going on?Semantic proximity Read ↗

A novel type of autosomal recessive syndactyly: clinical and molecular studies in a family of Pakistani origin.Semantic proximity Read ↗

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