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The HHID syndrome of hypertrichosis, hyperkeratosis, abnormal corpus callosum, intellectual disability, and minor anomalies is caused by mutations in ARID1B

Detalles Bibliográficos
Autores principales: Zweier, Markus, Peippo, Maarit M., Pöyhönen, Minna, Kääriäinen, Helena, Begemann, Anaïs, Joset, Pascal, Oneda, Beatrice, Rauch, Anita
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
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
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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
title_full The HHID syndrome of hypertrichosis, hyperkeratosis, abnormal corpus callosum, intellectual disability, and minor anomalies is caused by mutations in ARID1B
title_fullStr The HHID syndrome of hypertrichosis, hyperkeratosis, abnormal corpus callosum, intellectual disability, and minor anomalies is caused by mutations in ARID1B
title_full_unstemmed The HHID syndrome of hypertrichosis, hyperkeratosis, abnormal corpus callosum, intellectual disability, and minor anomalies is caused by mutations in ARID1B
title_short The HHID syndrome of hypertrichosis, hyperkeratosis, abnormal corpus callosum, intellectual disability, and minor anomalies is caused by mutations in ARID1B
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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