De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development
© 2017 Nature America, Inc. All rights reserved. Bosma arhinia microphthalmia syndrome (BAMS) is an extremely rare and striking condition characterized by complete absence of the nose with or without ocular defects. We report here that missense mutations in the epigenetic regulator SMCHD1 mapping to...
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Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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Format: | Article |
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2018
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Online Access: | https://repository.li.mahidol.ac.th/handle/123456789/41957 |
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Institution: | Mahidol University |
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