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Article

ADAMTSL2 mutations determine the phenotypic severity in geleophysic dysplasia.

JCI insight - 1 Feb 2024

Camarena Vladimir, Williams Monique M, Morales Alejo A, Zafeer Mohammad F, Kilic Okan V, Kamiar Ali, Abad Clemer, Rasmussen Monica A, Briski Laurence M, Peart LéShon, Bademci Guney, Barbouth Deborah S, Smithson Sarah, Wang Gaofeng, Shehadeh Lina A, Walz Katherina, Tekin Mustafa

Abstract excerpt

Geleophysic dysplasia-1 (GD1) is an autosomal recessive disorder caused by ADAMTS-like 2 (ADAMTSL2) variants. It is characterized by distinctive facial features, limited joint mobility, short stature, brachydactyly, and life-threatening cardiorespiratory complications. The clinical spectrum spans from perinatal lethality to milder adult phenotypes. We developed and characterized cellular and mouse models, to...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38300707
DOI: 10.1172/jci.insight.174417
PMCID: PMC10972594

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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