Condition: BRACHYDACTYLY, TYPE A2


rs121434417 in BMPR1B gene and BRACHYDACTYLY, TYPE A2 PMID 16957682 2006 A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2.

PMID 14523231 2003 Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2.

PMID 16957682 2006 Functional investigations of the R486Q mutation were performed and compared with the previously reported BDA2-causing mutation R486W and WT BMPR1B.

PMID 16957682 2006 Functional investigations of the R486Q mutation were performed and compared with the previously reported BDA2-causing mutation R486W and WT BMPR1B.

rs397514668 in GDF5-AS1;GDF5 gene and BRACHYDACTYLY, TYPE A2 PMID 21976273 2012 New insights into the molecular mechanism of multiple synostoses syndrome (SYNS): mutation within the GDF5 knuckle epitope causes noggin-resistance.

PMID 16127465 2005 Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2.

PMID 18203755 2008 We investigated a family with a brachydactyly type A2 and identified a heterozygous arginine to glutamine (R380Q) substitution in the growth/differentiation factor 5 (GDF5) in all affected individuals.