Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis.

doi:10.1016/j.gim.2022.07.012

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Article

Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Oct 2022

Boschann Felix, Cogulu Muhsin Ö, Pehlivan Davut, Balachandran Saranya, Vallecillo-Garcia Pedro, Grochowski Christopher M, Hansmeier Nils R, Coban Akdemir Zeynep H, Prada-Medina Cesar A, Aykut Ayca, Fischer-Zirnsak Björn, Badura Simon, Durmaz Burak, Ozkinay Ferda, Hägerling René, Posey Jennifer E, Stricker Sigmar, Gillessen-Kaesbach Gabriele, Spielmann Malte, Horn Denise, Brockmann Knut, Lupski James R, Kornak Uwe, Schmidt Julia

Abstract excerpt

PURPOSE: We aimed to identify the underlying genetic cause for a novel form of distal arthrogryposis. METHODS: Rare variant family-based genomics, exome sequencing, and disease-specific panel sequencing were used to detect ADAMTS15 variants in affected individuals. Adamts15 expression was analyzed at the single-cell level during murine embryogenesis. Expression patterns were characterized using in situ...

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PMID: 35962790
DOI: 10.1016/j.gim.2022.07.012
PMCID: PMC9982667

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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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