Brachydactyly type B2
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.
Lehmann K et al. (2007) A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN.[^]
Maroteaux P et al. (1972) [Multiple synostosis disease].[^]
Orphanet articleOrphanet ID 140908 [^]
OMIM.ORG articleOmim 611377 [^]