Human genes for brachydactyly type E2
Brachydactyly type E2 [DOID:0110976]
A characterized byautosomal dominant inheritance of short stature, tooth abnormaities, and short metacarpals and metatarsals that has_material_basis_in heterozygous mutation in the PTHLH gene on chromosome 12p.
Synonyms: brachydactyly type E2, DOID:0110976, BDE2