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The histone methyltransferase KMT2D, mutated in Kabuki syndrome patients, is required for neural crest cell formation and migration
Kabuki syndrome is an autosomal dominant developmental disorder with high similarities to CHARGE syndrome. It is characterized by a typical facial gestalt in combination with short stature, intellectual disability, skeletal findings and additional features like cardiac and urogenital malformations,...
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| Publié dans: | Hum Mol Genet |
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| Auteurs principaux: | , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
Oxford University Press
2020
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7003132/ https://ncbi.nlm.nih.gov/pubmed/31813957 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddz284 |
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