brachydactyly type E2 (Q32145522)
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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
- BDE2
- BRACHYDACTYLY, TYPE E2; BDE2
- BRACHYDACTYLY, TYPE E2
Language | Label | Description | Also known as |
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English | brachydactyly type E2 |
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 |
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