• A 4.6 kb genomic duplication on 20p12.2-12.3 is associated with brachydactyly type A2 in a Chinese family
• A 6.3 Mb maternally derived microduplication of 20p13p12.2 in a fetus with Brachydactyly type D and related literature review
• A homozygous BMPR1B mutation causes a new subtype of acromesomelic chondrodysplasia with genital anomalies
• A mutation in the receptor binding site of GDF5 causes Mohr-Wriedt brachydactyly type A2
• A novel duplication downstream of BMP2 in a Chinese family with Brachydactyly type A2 (BDA2)
• A novel mutation causing pseudohypoparathyroidism 1A with congenital hypothyroidism and osteoma cutis
• A novel patient with Cooks syndrome supports splitting from "classic" brachydactyly type B
• A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2
• Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2
• BMPR1B gene in brachydactyly type 2-A family with de novo R486W mutation and a disease phenotype
• Brachdactyly Instigated as a Result of Mutation in GDF5 and NOG Genes in Pakistani Population
• Brachydactyly type A 2 in an American Negro family
• Brachydactyly type A-7 (Smorgasbord): a new entity
• Brachydactyly type A2 associated with a defect in proGDF5 processing
• Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2
• Functional analysis of the long-range regulatory element of BMP2 gene
• Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe
• Identification of duplication downstream of BMP2 in a Chinese family with brachydactyly type A2 (BDA2)
• Modulation of GDF5/BRI-b signalling through interaction with the tyrosine kinase receptor Ror2
• Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2
• Novel mutation in the BMPR1B gene (R486L) in a Polish family and further delineation of the phenotypic features of BMPR1B-related brachydactyly
• PBL teaching design of medical genetics with the case of brachydactyly type A2
• Trisomy 20p derived from a maternal pericentric inversion and brachymesophalangy of the index finger