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

Human syndromes with congenital patellar anomalies and the underlying gene defects.

Clinical genetics - 1 Oct 2005

Bongers E M H F, van Kampen A, van Bokhoven H, Knoers N V A M

Abstract excerpt

Genetic disorders characterized by congenital patellar aplasia or hypoplasia belong to a clinically diverse and genetically heterogeneous group of lower limb malformations. Patella development involves different molecular and cellular mechanisms regulating dorso-ventral patterning, cartilage and bone formation along endochondral ossification pathways, and growth. Several human genes that are important for patella...

Read the complete abstract on PubMed

Topics

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

Share to Body Patterning
Share to Bone Diseases, Developmental
Share to Congenital heart defects research

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

Share to Genotype

Share to Limb Deformities, Congenital

Share to Patella

Share to Phenotype

Source

Identifiers

PMID: 16143015
DOI: 10.1111/j.1399-0004.2005.00508.x

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

Human syndromes with congenital patellar anomalies and the underlying gene defects.PMID 16143015Read ↗

Genetics of patella hypoplasia/agenesis.Semantic proximity Read ↗

Nail patella syndrome: a review of the phenotype aided by developmental biology.Semantic proximity Read ↗

Genetics of human isolated hereditary nail disorders.Semantic proximity Read ↗

Nail-patella syndrome. Overview on clinical and molecular findings.Semantic proximity Read ↗

Nail-patella syndrome.Semantic proximity Read ↗

Polydactyly: how many disorders and how many genes? 2010 update.Semantic proximity Read ↗

Genitopatellar syndrome: a new condition comprising absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation.Semantic proximity Read ↗

Nail patella syndrome. A 55-year follow-up of the original description.Semantic proximity Read ↗

Mutations in the human TBX4 gene cause small patella syndrome.Semantic proximity Read ↗

Achondroplasia and nail-patella syndrome: the compound phenotype.Semantic proximity Read ↗

Double-layered patella in multiple epiphyseal dysplasia is not exclusive to DTDST mutation.Semantic proximity Read ↗

[Prenatal diagnosis and pedigree analysis of a case of Nail-patella syndrome].Semantic proximity Read ↗

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