• 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 GDF5 frameshift mutation segregating with Grebe type chondrodysplasia and brachydactyly type C+ in a 6 generations family: Clinical report and mini review
• A Novel Maternally Inherited <em>GNAS</em> Variant in a Family With Hyperphagia and Obesity: 3 Cases
• Brachydactyly type A-4 (Temtamy type) with short stature in a Japanese girl and her mother
• Clinical characteristics of tricho-rhino-phalangeal syndrome type I in Taiwanese
• Identification of a GDF5 mutation in a Korean patient with brachydactyly type C without foot involvement
• Tricho-rhino-phalangeal syndrome type 1 as an outcome of in vitro fertilization?
• Uncombable hair syndrome with angel-shaped phalango-epiphyseal dysplasia