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Article

Haplotype Phasing of Biallelic WNT10B Variants Using Long-Read Sequencing in Split-Hand/Foot Malformation Syndrome.

Clinical genetics - 1 May 2025

Pozojevic Jelena, Kakar Naseebullah, Sczakiel Henrike L, Kruse Nathalie, Händler Kristian, Balachandran Saranya, Sreenivasan Varun, Mensah Martin A, Spielmann Malte

Abstract excerpt

Split-hand/foot malformation syndrome (SHFM) is a congenital limb malformation that is both clinically and genetically heterogeneous. Variants in WNT10B are known to cause an autosomal recessive form of SHFM. Here, we report a patient born to unrelated parents who was found to be a compound heterozygote for missense variants in WNT10B: c.994C>T, p.(Arg332Trp) and c.638T>G, p.(Phe213Cys). The variants were...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Limb Deformities, Congenital

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Source

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Identifiers

PMID: 39825730
DOI: 10.1111/cge.14706
PMCID: PMC11973024

Genes

WNT10B

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 9 Sept 2026.

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