Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe.

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Title: Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe.
Authors: Graul-Neumann LM; Ambulantes Gesundheitszentrum der Charité-Universitätsmedizin Berlin, Berlin, Germany., Deichsel A; 1] Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité-Universitätsmedizin Berlin, Berlin, Germany [2] Berlin-Brandenburg School for Regenerative Therapies (BSRT), Charité-Universitätsmedizin Berlin, Berlin, Germany., Wille U; 1] Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité-Universitätsmedizin Berlin, Berlin, Germany [2] Berlin-Brandenburg School for Regenerative Therapies (BSRT), Charité-Universitätsmedizin Berlin, Berlin, Germany., Kakar N; 1] Institute of Human Genetics, University of Ulm, Ulm, Germany [2] Department of Biotechnology and Informatics, BUITEMS, Quetta, Pakistan., Koll R; Institute for Medical and Human Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany., Bassir C; Pediatric Radiology, Charité-Universitätsmedizin Berlin, Berlin, Germany., Ahmad J; Department of Biotechnology and Informatics, BUITEMS, Quetta, Pakistan., Cormier-Daire V; Department of Genetics, Paris Descartes-Sorbonne Paris Cité, Fondation Imagine, Hopital Necker-Enfants Malades, Paris, France., Mundlos S; 1] Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité-Universitätsmedizin Berlin, Berlin, Germany [2] Institute for Medical and Human Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany., Kubisch C; Institute of Human Genetics, University of Ulm, Ulm, Germany., Borck G; Institute of Human Genetics, University of Ulm, Ulm, Germany., Klopocki E; 1] Institute for Medical and Human Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany [2] Institute for Human Genetics, University of Würzburg, Würzburg, Germany., Mueller TD; Julius-von-Sachs Institute, University of Würzburg, Würzburg, Germany., Doelken SC; Institute for Medical and Human Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany., Seemann P; 1] Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité-Universitätsmedizin Berlin, Berlin, Germany [2] Berlin-Brandenburg School for Regenerative Therapies (BSRT), Charité-Universitätsmedizin Berlin, Berlin, Germany.
Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2014 Jun; Vol. 22 (6), pp. 726-33. Date of Electronic Publication: 2013 Oct 16.
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1476-5438
DOI:10.1038/ejhg.2013.222