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Two novel mutations in RNU4ATAC in two siblings with an atypical mild phenotype of microcephalic osteodysplastic primordial dwarfism type 1
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Lippincott Williams & Wilkins
2016
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4772811/ https://www.ncbi.nlm.nih.gov/pubmed/26641461 http://dx.doi.org/10.1097/MCD.0000000000000110 |
| _version_ | 1782418630513786880 |
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| author | Krøigård, Anne B. Jackson, Andrew P. Bicknell, Louise S. Baple, Emma Brusgaard, Klaus Hansen, Lars K. Ousager, Lilian B. |
| author_facet | Krøigård, Anne B. Jackson, Andrew P. Bicknell, Louise S. Baple, Emma Brusgaard, Klaus Hansen, Lars K. Ousager, Lilian B. |
| author_sort | Krøigård, Anne B. |
| collection | PubMed |
| description | |
| format | Online Article Text |
| id | pubmed-4772811 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2016 |
| publisher | Lippincott Williams & Wilkins |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-47728112016-03-19 Two novel mutations in RNU4ATAC in two siblings with an atypical mild phenotype of microcephalic osteodysplastic primordial dwarfism type 1 Krøigård, Anne B. Jackson, Andrew P. Bicknell, Louise S. Baple, Emma Brusgaard, Klaus Hansen, Lars K. Ousager, Lilian B. Clin Dysmorphol Short Case Reports Lippincott Williams & Wilkins 2016-04 2016-03-07 /pmc/articles/PMC4772811/ /pubmed/26641461 http://dx.doi.org/10.1097/MCD.0000000000000110 Text en Copyright © 2016 Wolters Kluwer Health, Inc. All rights reserved. This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND), where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially. http://creativecommons.org/licenses/by-nc-nd/4.0/. |
| spellingShingle | Short Case Reports Krøigård, Anne B. Jackson, Andrew P. Bicknell, Louise S. Baple, Emma Brusgaard, Klaus Hansen, Lars K. Ousager, Lilian B. Two novel mutations in RNU4ATAC in two siblings with an atypical mild phenotype of microcephalic osteodysplastic primordial dwarfism type 1 |
| title | Two novel mutations in RNU4ATAC in two siblings with an atypical mild phenotype of microcephalic osteodysplastic primordial dwarfism type 1 |
| title_full | Two novel mutations in RNU4ATAC in two siblings with an atypical mild phenotype of microcephalic osteodysplastic primordial dwarfism type 1 |
| title_fullStr | Two novel mutations in RNU4ATAC in two siblings with an atypical mild phenotype of microcephalic osteodysplastic primordial dwarfism type 1 |
| title_full_unstemmed | Two novel mutations in RNU4ATAC in two siblings with an atypical mild phenotype of microcephalic osteodysplastic primordial dwarfism type 1 |
| title_short | Two novel mutations in RNU4ATAC in two siblings with an atypical mild phenotype of microcephalic osteodysplastic primordial dwarfism type 1 |
| title_sort | two novel mutations in rnu4atac in two siblings with an atypical mild phenotype of microcephalic osteodysplastic primordial dwarfism type 1 |
| topic | Short Case Reports |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4772811/ https://www.ncbi.nlm.nih.gov/pubmed/26641461 http://dx.doi.org/10.1097/MCD.0000000000000110 |
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