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Brachydactyly type A1, C

Brachydactyly type A1, C is an autosomal dominant disorder caused by mutations of the GDF5 gene. Characteristic is a shortage or even absence of middle phalanges of all digits. Patients exhibit a short stature and some other skeletal abnormalities.

Systematic

Brachydactyly type A1
Brachydactyly type A1, A
Brachydactyly type A1, B
Brachydactyly type A1, C
GDF5
Brachydactyly type A1, D

References:

1.

Byrnes AM et al. (2010) Mutations in GDF5 presenting as semidominant brachydactyly A1.

external link
2.

OMIM.ORG article

Omim 615072 external link
Update: Aug. 14, 2020
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