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

Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome.

American journal of medical genetics. Part A - 1 Dec 2003

Faivre Laurence, Dollfus Hélène, Lyonnet Stanislas, Alembik Yves, Mégarbané André, Samples John, Gorlin Robert J, Alswaid Abdulrahman, Feingold Josué, Le Merrer Martine, Munnich Arnold, Cormier-Daire Valérie

Abstract excerpt

Weill-Marchesani syndrome (WMS) is a rare condition characterized by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities including microspherophakia, ectopia of lens, severe myopia, and glaucoma. Both autosomal recessive (AR) and autosomal dominant (AD) modes of inheritance have been described for WMS. A locus for AR WMS has recently been mapped to chromosome 19p13.3-p13.2 while...

Read the complete abstract on PubMed

Topics

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

Share to Abnormalities, Multiple
Share to Dwarfism

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Eye Abnormalities

Share to Genetic Heterogeneity

Share to Growth Disorders

Share to Inheritance Patterns

Share to Phenotype

Share to Syndrome

Source

Identifiers

PMID: 14598350
DOI: 10.1002/ajmg.a.20289

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome.PMID 14598350Read ↗

Weill-Marchesani syndrome: natural history and genotype-phenotype correlations from 18 news cases and review of literature.Semantic proximity Read ↗

Geleophysic dysplasia and Weill-Marchesani syndrome: ADAMTSL2 a possible common gene.Semantic proximity Read ↗

ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome.Semantic proximity Read ↗

Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature.Semantic proximity Read ↗

A novel pathogenic missense ADAMTS17 variant that impairs secretion causes Weill-Marchesani Syndrome with variably dysmorphic hand features.Semantic proximity Read ↗

Characteristics in phenotypic manifestations of genetically proved Marfan syndrome in a Japanese population.Semantic proximity Read ↗

[Weill Marchesani syndrome. Report of a case].Semantic proximity Read ↗

A novel ADAMTS17 variant that causes Weill-Marchesani syndrome 4 alters fibrillin-1 and collagen type I deposition in the extracellular matrix.Semantic proximity Read ↗

Familial spherophakia with short stature caused by a novel homozygous ADAMTS17 mutation.Semantic proximity Read ↗

Heterogeneity versus variability in megalocornea-mental retardation (MMR) syndromes: report of new cases and delineation of 4 probable types.Semantic proximity Read ↗

Clinical variation of Aarskog syndrome in a large family with 2189delA in the FGD1 gene.Semantic proximity Read ↗

Locus heterogeneity for Waardenburg syndrome is predictive of clinical subtypes.Semantic proximity Read ↗

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