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Article

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

American journal of human genetics - 1 Nov 2009

Morales Jose, Al-Sharif Latifa, Khalil Dania S, Shinwari Jameela M A, Bavi Prashant, Al-Mahrouqi Rahima A, Al-Rajhi Ali, Alkuraya Fowzan S, Meyer Brian F, Al Tassan Nada

Abstract excerpt

Weill-Marchesani syndrome (WMS) is a well-characterized disorder in which patients develop eye and skeletal abnormalities. Autosomal-recessive and autosomal-dominant forms of WMS are caused by mutations in ADAMTS10 and FBN1 genes, respectively. Here we report on 13 patients from seven unrelated f...

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Source

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Identifiers

PMID: 19836009
DOI: 10.1016/j.ajhg.2009.09.011
PMCID: PMC2775842

Genes

ADAMTS17
ADAMTS10
FBN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19836009-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature.PMID 19836009Read ↗

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Whole exome sequencing identifies a novel splice-site mutation in ADAMTS17 in an Indian family with Weill-Marchesani syndrome.Semantic proximity Read ↗

The ADAMTS/Fibrillin Connection: Insights into the Biological Functions of ADAMTS10 and ADAMTS17 and Their Respective Sister Proteases.Semantic proximity Read ↗

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Combined ADAMTS10 and ADAMTS17 inactivation exacerbates bone shortening and compromises extracellular matrix formationSemantic proximity Read ↗

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