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Cole-Carpenter Syndrome Is Caused by a Heterozygous Missense Mutation in P4HB |
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| Authors: | Frank Rauch Somayyeh Fahiminiya Jacek Majewski Jian Carrot-Zhang Sergei Boudko Francis Glorieux John?S. Mort Hans-Peter B?chinger Pierre Moffatt |
| Affiliation: | 1.Shriners Hospital for Children, Montréal, QC H3G 1A6, Canada;2.Department of Human Genetics, McGill University and Génome Québec Innovation Centre, Montréal, QC H3A 1B1, Canada;3.Shriners Hospital for Children, Portland, OR 97239, USA |
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