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Article

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

Molecular vision - 1 Jan 2014

Shah Mohd Hussain, Bhat Vishwanath, Shetty Jyoti S, Kumar Arun

Abstract excerpt

PURPOSE: Weill-Marchesani syndrome (WMS) is a rare connective tissue disorder, characterized by short stature, microspherophakic lens, and stubby hands and feet (brachydactyly). WMS is caused by mutations in the FBN1, ADAMTS10, and LTBP2 genes. Mutations in the LTBP2 and ADAMTS17 genes cause a WMS-like syndrome, in which the affected individuals show major features of WMS but do not display brachydactyly and...

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Source

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Identifiers

PMID: 24940034
PMCID: PMC4057248

Genes

ADAMTS17
LTBP2
ADAMTS10
FBN1

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.

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