Genome sequencing in families with congenital limb malformations.

doi:10.1007/s00439-021-02295-y

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Article

Genome sequencing in families with congenital limb malformations.

Human genetics - 1 Aug 2021

Elsner Jonas, Mensah Martin A, Holtgrewe Manuel, Hertzberg Jakob, Bigoni Stefania, Busche Andreas, Coutelier Marie, de Silva Deepthi C, Elçioglu Nursel, Filges Isabel, Gerkes Erica, Girisha Katta M, Graul-Neumann Luitgard, Jamsheer Aleksander, Krawitz Peter, Kurth Ingo, Markus Susanne, Megarbane Andre, Reis André, Reuter Miriam S, Svoboda Daniel, Teller Christopher, Tuysuz Beyhan, Türkmen Seval, Wilson Meredith, Woitschach Rixa, Vater Inga, Caliebe Almuth, Hülsemann Wiebke, Horn Denise, Mundlos Stefan, Spielmann Malte

Abstract excerpt

The extensive clinical and genetic heterogeneity of congenital limb malformation calls for comprehensive genome-wide analysis of genetic variation. Genome sequencing (GS) has the potential to identify all genetic variants. Here we aim to determine the diagnostic potential of GS as a comprehensive one-test-for-all strategy in a cohort of undiagnosed patients with congenital limb malformations. We collected 69...

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Identifiers

PMID: 34159400
DOI: 10.1007/s00439-021-02295-y
PMCID: PMC8263393

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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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