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Article

The Sh3Pxd2bnee-/- mouse reveals developmental features of Frank-ter Haar syndrome.

Development (Cambridge, England) - 15 Jan 2026

Huber Julika, Menon Siddharth, Lopez-Torres Michael, Guo Jason L, Longaker Michael T

Abstract excerpt

Frank-ter Haar syndrome (FTHS) is an inherited disease associated with variants of the SH3PXD2B gene, encoding for the podosomal adaptor protein known as TKS4. FTHS is characterized by multiple skeletal abnormalities, developmental delay and severe craniofacial dysmorphology. This study provides an in-depth characterization of the calvarial phenotype of a mouse model of FTHS and investigates the potential...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41521804
DOI: 10.1242/dev.204631
PMCID: PMC12912270

Genes

SH3PXD2B

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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