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The HHID syndrome of hypertrichosis, hyperkeratosis, abnormal corpus callosum, intellectual disability, and minor anomalies is caused by mutations in ARID1B
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5413807/ https://www.ncbi.nlm.nih.gov/pubmed/28323383 http://dx.doi.org/10.1002/ajmg.a.38143 |
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author | Zweier, Markus Peippo, Maarit M. Pöyhönen, Minna Kääriäinen, Helena Begemann, Anaïs Joset, Pascal Oneda, Beatrice Rauch, Anita |
author_facet | Zweier, Markus Peippo, Maarit M. Pöyhönen, Minna Kääriäinen, Helena Begemann, Anaïs Joset, Pascal Oneda, Beatrice Rauch, Anita |
author_sort | Zweier, Markus |
collection | PubMed |
description | |
format | Online Article Text |
id | pubmed-5413807 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | John Wiley and Sons Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-54138072017-05-15 The HHID syndrome of hypertrichosis, hyperkeratosis, abnormal corpus callosum, intellectual disability, and minor anomalies is caused by mutations in ARID1B Zweier, Markus Peippo, Maarit M. Pöyhönen, Minna Kääriäinen, Helena Begemann, Anaïs Joset, Pascal Oneda, Beatrice Rauch, Anita Am J Med Genet A Research Letters John Wiley and Sons Inc. 2017-03-21 2017-05 /pmc/articles/PMC5413807/ /pubmed/28323383 http://dx.doi.org/10.1002/ajmg.a.38143 Text en © 2017 The Authors. American Journal of Medical Genetics Part A Published by Wiley Periodicals, Inc. This is an open access article under the terms of the Creative Commons Attribution‐NonCommercial‐NoDerivs (http://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made. |
spellingShingle | Research Letters Zweier, Markus Peippo, Maarit M. Pöyhönen, Minna Kääriäinen, Helena Begemann, Anaïs Joset, Pascal Oneda, Beatrice Rauch, Anita The HHID syndrome of hypertrichosis, hyperkeratosis, abnormal corpus callosum, intellectual disability, and minor anomalies is caused by mutations in ARID1B |
title | The HHID syndrome of hypertrichosis, hyperkeratosis, abnormal corpus callosum, intellectual disability, and minor anomalies is caused by mutations in ARID1B
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title_full | The HHID syndrome of hypertrichosis, hyperkeratosis, abnormal corpus callosum, intellectual disability, and minor anomalies is caused by mutations in ARID1B
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title_fullStr | The HHID syndrome of hypertrichosis, hyperkeratosis, abnormal corpus callosum, intellectual disability, and minor anomalies is caused by mutations in ARID1B
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title_full_unstemmed | The HHID syndrome of hypertrichosis, hyperkeratosis, abnormal corpus callosum, intellectual disability, and minor anomalies is caused by mutations in ARID1B
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title_short | The HHID syndrome of hypertrichosis, hyperkeratosis, abnormal corpus callosum, intellectual disability, and minor anomalies is caused by mutations in ARID1B
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title_sort | hhid syndrome of hypertrichosis, hyperkeratosis, abnormal corpus callosum, intellectual disability, and minor anomalies is caused by mutations in arid1b |
topic | Research Letters |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5413807/ https://www.ncbi.nlm.nih.gov/pubmed/28323383 http://dx.doi.org/10.1002/ajmg.a.38143 |
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