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

Compound heterozygosity for GDF5 in Du Pan type chondrodysplasia.

American journal of medical genetics. Part A - 15 Aug 2008

Douzgou Sofia, Lehmann Katarina, Mingarelli Rita, Mundlos Stefan, Dallapiccola Bruno

Abstract excerpt

Du Pan type chondrodysplasia (DPC) represents the milder end of homozygous growth differentiation factor 5 (GDF5) disorders. We report on a 20-month-old child with complex brachydactyly and mild proximal fibular hypoplasia, consistent with DPC, in the absence of other anomalies of long bones and joints. Mutational analysis disclosed two novel GDF5 mutations within the protein's mature domain and in the cleavage...

Read the complete abstract on PubMed

Topics

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

Share to Bone Morphogenetic Proteins
Share to Foot Deformities, Congenital

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genes, Recessive

Share to Growth Differentiation Factor 5

Share to Hand Deformities, Congenital

Share to Osteochondrodysplasias

Share to Radiography

Share to Syndactyly

Source

Identifiers

PMID: 18629880
DOI: 10.1002/ajmg.a.32435

Genes

GDF5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Compound heterozygosity for GDF5 in Du Pan type chondrodysplasia.PMID 18629880Read ↗

GDF5 mutation case report and a systematic review of molecular and clinical spectrum: Expanding current knowledge on genotype-phenotype correlations.Semantic proximity Read ↗

Novel point mutations in GDF5 associated with two distinct limb malformations in Chinese: brachydactyly type C and proximal symphalangism.Semantic proximity Read ↗

The mutational spectrum of brachydactyly type C.Semantic proximity Read ↗

Two novel homozygous missense mutations in the GDF5 gene cause brachydactyly type C.Semantic proximity Read ↗

Identification of a GDF5 mutation in a Korean patient with brachydactyly type C without foot involvement.Semantic proximity Read ↗

Novel homozygous sequence variants in the GDF5 gene underlie acromesomelic dysplasia type-grebe in consanguineous families.Semantic proximity Read ↗

Frameshift Mutation in a Chinese Patient with Brachydactyly Type C Involving the Third Metacarpal: A Case Report.Semantic proximity Read ↗

A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia.Semantic proximity Read ↗

Characterization of a novel missense mutation in the prodomain of GDF5, which underlies brachydactyly type C and mild Grebe type chondrodysplasia in a large Pakistani family.Semantic proximity Read ↗

A novel mutation in GDF5 causes autosomal dominant symphalangism in two Chinese families.Semantic proximity Read ↗

New intermediate phenotype between MED and DD caused by compound heterozygous mutations in the DTDST gene.Semantic proximity Read ↗

A GDF5 Point Mutation Strikes Twice - Causing BDA1 and SYNS2Semantic proximity Read ↗

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