Brachydactyly type B2 is an autosomal dominant disorder caused by mutations of the NOG gene. Characteristic is a shortage of distal phalanges of digits 2-5. Occasionally nail deformities are observed. Short stature and other skeletal abnormalities are not typical.
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Lehmann K et al. (2007) A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN. |
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Orphanet article Orphanet ID 140908 |
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OMIM.ORG article Omim 611377 |