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Novel mutation in the BMPR1B gene (R486L) in a polish family and further delineation of the phenotypic features of BMPR1B‐Related brachydactyly |
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| Authors: | Magdalena Badura‐Stronka Dariusz Mróz Peter Beighton Sebastian Łukawiecki Katarzyna Wicher Anna Latos‐Bieleńska Kazimierz Kozłowski |
| Affiliation: | 1. Department of Medical Genetics, Poznan University of Medical Sciences, Poznań, Poland;2. Center for Medical Genetics GENESIS, Department of Research and Development, Poznań, Poland;3. Division of Human Genetics, Faculty of Health Sciences, University of Cape Town, South Africa;4. Department of Cardiology, Laboratory of Hemodynamics, Multidisciplinary Hospital, Nowa Sól, Poland;5. Department of Medical Imaging, The Children's Hospital at Westmead, Sydney, Australia |
| Abstract: | |
| Keywords: | angiogenesis BMPR1B brachydactyly A2 brachydactyly C |