Noncoding copy-number variations are associated with congenital limb malformation.

doi:10.1038/gim.2017.154

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Article

Noncoding copy-number variations are associated with congenital limb malformation.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jun 2018

Flöttmann Ricarda, Kragesteen Bjørt K, Geuer Sinje, Socha Magdalena, Allou Lila, Sowińska-Seidler Anna, Bosquillon de Jarcy Laure, Wagner Johannes, Jamsheer Aleksander, Oehl-Jaschkowitz Barbara, Wittler Lars, de Silva Deepthi, Kurth Ingo, Maya Idit, Santos-Simarro Fernando, Hülsemann Wiebke, Klopocki Eva, Mountford Roger, Fryer Alan, Borck Guntram, Horn Denise, Lapunzina Pablo, Wilson Meredith, Mascrez Bénédicte, Duboule Denis, Mundlos Stefan, Spielmann Malte

Abstract excerpt

PurposeCopy-number variants (CNVs) are generally interpreted by linking the effects of gene dosage with phenotypes. The clinical interpretation of noncoding CNVs remains challenging. We investigated the percentage of disease-associated CNVs in patients with congenital limb malformations that affect noncoding cis-regulatory sequences versus genes sensitive to gene dosage effects.MethodsWe applied high-resolution...

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PMID: 29236091
DOI: 10.1038/gim.2017.154

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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