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Brachydactyly type A1, B

Brachydactyly type A1, B is an autosomal dominant disorder which genetic background remains to be determined. 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
Brachydactyly type A1, D

References:

1.

Armour CM et al. (2000) Clinical and radiological assessment of a family with mild brachydactyly type A1: the usefulness of metacarpophalangeal profiles.

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2.

Armour CM et al. (2002) A novel locus for brachydactyly type A1 on chromosome 5p13.3-p13.2.

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3.

OMIM.ORG article

Omim 607004 external link
4.

Wikipedia article

Wikipedia EN (Brachydactyly) external link
Update: Aug. 14, 2020
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