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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
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  Data: Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe.
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  Data: <searchLink fieldCode="AU" term="%22Graul-Neumann+LM%22">Graul-Neumann LM</searchLink>; Ambulantes Gesundheitszentrum der Charité-Universitätsmedizin Berlin, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Deichsel+A%22">Deichsel A</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Wille+U%22">Wille U</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Kakar+N%22">Kakar N</searchLink>; 1] Institute of Human Genetics, University of Ulm, Ulm, Germany [2] Department of Biotechnology and Informatics, BUITEMS, Quetta, Pakistan.<br /><searchLink fieldCode="AU" term="%22Koll+R%22">Koll R</searchLink>; Institute for Medical and Human Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Bassir+C%22">Bassir C</searchLink>; Pediatric Radiology, Charité-Universitätsmedizin Berlin, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Ahmad+J%22">Ahmad J</searchLink>; Department of Biotechnology and Informatics, BUITEMS, Quetta, Pakistan.<br /><searchLink fieldCode="AU" term="%22Cormier-Daire+V%22">Cormier-Daire V</searchLink>; Department of Genetics, Paris Descartes-Sorbonne Paris Cité, Fondation Imagine, Hopital Necker-Enfants Malades, Paris, France.<br /><searchLink fieldCode="AU" term="%22Mundlos+S%22">Mundlos S</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Kubisch+C%22">Kubisch C</searchLink>; Institute of Human Genetics, University of Ulm, Ulm, Germany.<br /><searchLink fieldCode="AU" term="%22Borck+G%22">Borck G</searchLink>; Institute of Human Genetics, University of Ulm, Ulm, Germany.<br /><searchLink fieldCode="AU" term="%22Klopocki+E%22">Klopocki E</searchLink>; 1] Institute for Medical and Human Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany [2] Institute for Human Genetics, University of Würzburg, Würzburg, Germany.<br /><searchLink fieldCode="AU" term="%22Mueller+TD%22">Mueller TD</searchLink>; Julius-von-Sachs Institute, University of Würzburg, Würzburg, Germany.<br /><searchLink fieldCode="AU" term="%22Doelken+SC%22">Doelken SC</searchLink>; Institute for Medical and Human Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Seemann+P%22">Seemann P</searchLink>; 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.
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  Data: <searchLink fieldCode="JN" term="%229302235%22">European journal of human genetics : EJHG</searchLink> [Eur J Hum Genet] 2014 Jun; Vol. 22 (6), pp. 726-33. <i>Date of Electronic Publication: </i>2013 Oct 16.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Nature+Publishing+Group%22">Nature Publishing Group </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>9302235 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1476-5438 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210184813%22">10184813 </searchLink><i>NLM ISO Abbreviation: </i>Eur J Hum Genet <i>Subsets: </i>MEDLINE
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