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Short 3rd finger
- ... legs, a small chest with short ribs, unusually short fingers and toes (brachydactyly), and flattened vertebrae (platyspondyly). Affected ...
- ... functions. These proteins each contain one or more short regions called zinc finger domains, which include a specific pattern of protein ...
- ... Barlev N, Berger SL, Prendergast GC, Rauscher FJ 3rd. BAP1: a novel ubiquitin hydrolase which binds to the BRCA1 RING finger and enhances BRCA1-mediated cell growth suppression. Oncogene. ...
- ... individuals are usually tall and slender with elongated fingers and toes and other skeletal abnormalities. Most of ... Beroud G, Boileau C. Marfan syndrome in the third Millennium. Eur J Hum Genet. 2002 Nov;10( ...
- ... is found in primary cilia, which are microscopic, finger-like projections that stick out from the surface ... Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients. Hum Genet. ...