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Multiple Mongolian spots in an individual with Kleefstra syndrome caused by a novel nonsense euchromatin histone methyltransferase 1 variant
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Lippincott Williams & Wilkins
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9741983/ https://www.ncbi.nlm.nih.gov/pubmed/36250449 http://dx.doi.org/10.1097/MCD.0000000000000436 |
| _version_ | 1784848433083842560 |
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| author | Pan, Xiang Lu, Jun |
| author_facet | Pan, Xiang Lu, Jun |
| author_sort | Pan, Xiang |
| collection | PubMed |
| description | |
| format | Online Article Text |
| id | pubmed-9741983 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2022 |
| publisher | Lippincott Williams & Wilkins |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-97419832022-12-13 Multiple Mongolian spots in an individual with Kleefstra syndrome caused by a novel nonsense euchromatin histone methyltransferase 1 variant Pan, Xiang Lu, Jun Clin Dysmorphol Short Case Reports Lippincott Williams & Wilkins 2022-09-16 2023-01 /pmc/articles/PMC9741983/ /pubmed/36250449 http://dx.doi.org/10.1097/MCD.0000000000000436 Text en Copyright © 2022 The Author(s). Published by Wolters Kluwer Health, Inc. https://creativecommons.org/licenses/by-nc-nd/4.0/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) (https://creativecommons.org/licenses/by-nc-nd/4.0/) , 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 without permission from the journal. |
| spellingShingle | Short Case Reports Pan, Xiang Lu, Jun Multiple Mongolian spots in an individual with Kleefstra syndrome caused by a novel nonsense euchromatin histone methyltransferase 1 variant |
| title | Multiple Mongolian spots in an individual with Kleefstra syndrome caused by a novel nonsense euchromatin histone methyltransferase 1 variant |
| title_full | Multiple Mongolian spots in an individual with Kleefstra syndrome caused by a novel nonsense euchromatin histone methyltransferase 1 variant |
| title_fullStr | Multiple Mongolian spots in an individual with Kleefstra syndrome caused by a novel nonsense euchromatin histone methyltransferase 1 variant |
| title_full_unstemmed | Multiple Mongolian spots in an individual with Kleefstra syndrome caused by a novel nonsense euchromatin histone methyltransferase 1 variant |
| title_short | Multiple Mongolian spots in an individual with Kleefstra syndrome caused by a novel nonsense euchromatin histone methyltransferase 1 variant |
| title_sort | multiple mongolian spots in an individual with kleefstra syndrome caused by a novel nonsense euchromatin histone methyltransferase 1 variant |
| topic | Short Case Reports |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9741983/ https://www.ncbi.nlm.nih.gov/pubmed/36250449 http://dx.doi.org/10.1097/MCD.0000000000000436 |
| work_keys_str_mv | AT panxiang multiplemongolianspotsinanindividualwithkleefstrasyndromecausedbyanovelnonsenseeuchromatinhistonemethyltransferase1variant AT lujun multiplemongolianspotsinanindividualwithkleefstrasyndromecausedbyanovelnonsenseeuchromatinhistonemethyltransferase1variant |