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Article

Novel ADAMTSL2-mutations in a patient with geleophysic dysplasia type I.

Clinical dysmorphology - 1 Jul 2016

Mackenroth Luisa, Rump Andreas, Lorenz Peter, Schröck Evelin, Tzschach Andreas

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Share to ADAMTS Proteins
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 27057656
DOI: 10.1097/MCD.0000000000000124

Genes

ADAMTSL2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

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Novel ADAMTSL2-mutations in a patient with geleophysic dysplasia type I.PMID 27057656Read ↗

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Geleophysic Dysplasia with Novel ADAMTSL2 Compound Heterozygous Mutations: A Case Report of Progressive Skeletal Dysplasia with Multisystem InvolvementSemantic proximity Read ↗

Novel mutations in geleophysic dysplasia type 1.Semantic proximity Read ↗

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

Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia.Semantic proximity Read ↗

ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation.Semantic proximity Read ↗

Inherited and de novo mutations of ADAMTS13 in a patient with Upshaw-Schulman syndrome.Semantic proximity Read ↗

Geleophysic and acromicric dysplasias: natural history, genotype-phenotype correlations, and management guidelines from 38 cases.Semantic proximity Read ↗

A Neonatal Manifestation of Geleophysic Dysplasia Type 1: A Case Report Highlighting Phenotypic Overlap With Al-Gazali Skeletal Dysplasia.Semantic proximity Read ↗

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