Article

LAMA5 deficiency disrupts ECM–WNT crosstalk in chondrogenesis and contributes to idiopathic short stature

2025-11-19

Abstract excerpt

Idiopathic short stature (ISS) affects 2%–3% of the population and is genetically heterogeneous, with emerging evidence implicating the extracellular matrix (ECM) of the growth plate. We identify LAMA5 , encoding laminin-α5, as a candidate ISS gene, with rare heterozygous variants present in 1.2% of affected individuals. To define its functional role, we generated CRISPR/Cas9-mediated LAMA5-knockout (KO) urine-de...

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Literature Corpus work: 6023f00f-46b3-55d2-9587-dc2538b0526e
DOI: 10.1101/2025.11.19.689218

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