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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: | Zweier, Markus, Peippo, Maarit M., Pöyhönen, Minna, Kääriäinen, Helena, Begemann, Anaïs, Joset, Pascal, Oneda, Beatrice, Rauch, Anita |
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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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