Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement
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| Format: | Online |
| Language: | English |
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BMJ Publishing Group
2013
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| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3627132/ |
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pubmed-3627132 |
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pubmed-36271322013-04-16 Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement Schmidts, Miriam Arts, Heleen H Bongers, Ernie M H F Yap, Zhimin Oud, Machteld M Antony, Dinu Duijkers, Lonneke Emes, Richard D Stalker, Jim Yntema, Jan-Bart L Plagnol, Vincent Hoischen, Alexander Gilissen, Christian Forsythe, Elisabeth Lausch, Ekkehart Veltman, Joris A Roeleveld, Nel Superti-Furga, Andrea Kutkowska-Kazmierczak, Anna Kamsteeg, Erik-Jan Elçioğlu, Nursel van Maarle, Merel C Graul-Neumann, Luitgard M Devriendt, Koenraad Smithson, Sarah F Wellesley, Diana Verbeek, Nienke E Hennekam, Raoul C M Kayserili, Hulya Scambler, Peter J Beales, Philip L Knoers, Nine VAM Roepman, Ronald Mitchison, Hannah M Developmental Defects BMJ Publishing Group 2013-05 2013-03-01 /pmc/articles/PMC3627132/ /pubmed/23456818 http://dx.doi.org/10.1136/jmedgenet-2012-101284 Text en Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions This is an open-access article distributed under the terms of the Creative Commons Attribution Non-commercial License, which permits use, distribution, and reproduction in any medium, provided the original work is properly cited, the use is non commercial and is otherwise in compliance with the license. See: http://creativecommons.org/licenses/by-nc/3.0/ and http://creativecommons.org/licenses/by-nc/3.0/legalcode |
| repository_type |
Open Access Journal |
| institution_category |
Foreign Institution |
| institution |
US National Center for Biotechnology Information |
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NCBI PubMed |
| collection |
Online Access |
| language |
English |
| format |
Online |
| author |
Schmidts, Miriam Arts, Heleen H Bongers, Ernie M H F Yap, Zhimin Oud, Machteld M Antony, Dinu Duijkers, Lonneke Emes, Richard D Stalker, Jim Yntema, Jan-Bart L Plagnol, Vincent Hoischen, Alexander Gilissen, Christian Forsythe, Elisabeth Lausch, Ekkehart Veltman, Joris A Roeleveld, Nel Superti-Furga, Andrea Kutkowska-Kazmierczak, Anna Kamsteeg, Erik-Jan Elçioğlu, Nursel van Maarle, Merel C Graul-Neumann, Luitgard M Devriendt, Koenraad Smithson, Sarah F Wellesley, Diana Verbeek, Nienke E Hennekam, Raoul C M Kayserili, Hulya Scambler, Peter J Beales, Philip L Knoers, Nine VAM Roepman, Ronald Mitchison, Hannah M |
| spellingShingle |
Schmidts, Miriam Arts, Heleen H Bongers, Ernie M H F Yap, Zhimin Oud, Machteld M Antony, Dinu Duijkers, Lonneke Emes, Richard D Stalker, Jim Yntema, Jan-Bart L Plagnol, Vincent Hoischen, Alexander Gilissen, Christian Forsythe, Elisabeth Lausch, Ekkehart Veltman, Joris A Roeleveld, Nel Superti-Furga, Andrea Kutkowska-Kazmierczak, Anna Kamsteeg, Erik-Jan Elçioğlu, Nursel van Maarle, Merel C Graul-Neumann, Luitgard M Devriendt, Koenraad Smithson, Sarah F Wellesley, Diana Verbeek, Nienke E Hennekam, Raoul C M Kayserili, Hulya Scambler, Peter J Beales, Philip L Knoers, Nine VAM Roepman, Ronald Mitchison, Hannah M Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement |
| author_facet |
Schmidts, Miriam Arts, Heleen H Bongers, Ernie M H F Yap, Zhimin Oud, Machteld M Antony, Dinu Duijkers, Lonneke Emes, Richard D Stalker, Jim Yntema, Jan-Bart L Plagnol, Vincent Hoischen, Alexander Gilissen, Christian Forsythe, Elisabeth Lausch, Ekkehart Veltman, Joris A Roeleveld, Nel Superti-Furga, Andrea Kutkowska-Kazmierczak, Anna Kamsteeg, Erik-Jan Elçioğlu, Nursel van Maarle, Merel C Graul-Neumann, Luitgard M Devriendt, Koenraad Smithson, Sarah F Wellesley, Diana Verbeek, Nienke E Hennekam, Raoul C M Kayserili, Hulya Scambler, Peter J Beales, Philip L Knoers, Nine VAM Roepman, Ronald Mitchison, Hannah M |
| author_sort |
Schmidts, Miriam |
| title |
Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement |
| title_short |
Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement |
| title_full |
Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement |
| title_fullStr |
Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement |
| title_full_unstemmed |
Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement |
| title_sort |
exome sequencing identifies dync2h1 mutations as a common cause of asphyxiating thoracic dystrophy (jeune syndrome) without major polydactyly, renal or retinal involvement |
| description |
|
| publisher |
BMJ Publishing Group |
| publishDate |
2013 |
| url |
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3627132/ |
| _version_ |
1611970320805134336 |