Hunter-Thompson type

Hunter-Thompson type
a condition caused by mutations in the GDF5 gene (locus: 20q11.2), which encodes a growth factor of the TGF-β superfamily, characterized by mildly shortened forearms and legs, extremely short metacarpals, absence of finger phalanges, and variable hypoplasia of the metatarsals and phalanges of the toes. It is allelic with Grebe chondrodysplasia.

Medical dictionary. 2011.

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