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Article

Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia.

Journal of medical genetics - 1 Jul 2016

McInerney-Leo Aideen M, Le Goff Carine, Leo Paul J, Kenna Tony J, Keith Patricia, Harris Jessica E, Steer Ruth, Bole-Feysot Christine, Nitschke Patrick, Kielty Cay, Brown Matthew A, Zankl Andreas, Duncan Emma L, Cormier-Daire Valerie

Abstract excerpt

BACKGROUND: Acromelic dysplasias are a group of disorders characterised by short stature, brachydactyly, limited joint extension and thickened skin and comprises acromicric dysplasia (AD), geleophysic dysplasia (GD), Myhre syndrome and Weill-Marchesani syndrome. Mutations in several genes have been identified for these disorders (including latent transforming growth factor β (TGF-β)-binding protein-2 (LTBP2),...

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

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Source

Identifiers

PMID: 27068007
DOI: 10.1136/jmedgenet-2015-103647

Genes

LTBP3
FBN1
ADAMTS10
ADAMTSL2
LTBP2

Variants

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.

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Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia.PMID 27068007Read ↗

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Genetic and molecular aspects of acromelic dysplasia.Semantic proximity Read ↗

Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.Semantic proximity Read ↗

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