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ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin–Siris-like syndrome
KBG syndrome (KBGS) is an autosomal dominant multiple congenital anomaly-intellectual disability syndrome, characterized by developmental delay with neurological involvements, macrodontia of the upper central incisors, characteristic facial dysmorphism and skeletal anomalies. Variants in ANKRD11 cau...
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| 出版年: | J Hum Genet |
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| 主要な著者: | , , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Nature Publishing Group
2017
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5537415/ https://ncbi.nlm.nih.gov/pubmed/28250421 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/jhg.2017.24 |
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