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Article

Familial spherophakia with short stature caused by a novel homozygous ADAMTS17 mutation.

Ophthalmic genetics - 1 Dec 2012

Khan Arif O, Aldahmesh Mohammed A, Al-Ghadeer Huda, Mohamed Jawaher Y, Alkuraya Fowzan S

Abstract excerpt

PURPOSE: Weill-Marchesani syndrome is characterized by spherophakia, short stature, short hands/feet, joint stiffness, and occasional cardiac abnormalities. The phenotype can be caused by recessive ADAMTS10 mutations or heterozygous fibrillin-1 mutation. In contrast, isolated spherophakia with short stature has been associated with three different homozygous ADAMTS17 mutations in three families from Saudi Arabia....

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Source

Identifiers

PMID: 22486325
DOI: 10.3109/13816810.2012.666708

Genes

ADAMTS17
ADAMTS10

Variants

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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