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Description
Schuchardt J

Nature 611 , 358364 (2022)
Affected children have a very distinctive appearance, including wry facies, short stature, spondylo-epiphyseal dysplasia, a hunched posture due to muscle stiffness, slow muscle relaxation after voluntary contraction, and percussion myotonia (80)

The pathways activated through CD44-HA binding include Ras, MAPK, and PI3K [28]
