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Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndrome
BACKGROUND: KBG syndrome, a rare autosomal disorder characterised by distinctive craniofacial and skeletal features and developmental delay, is caused by haploinsufficiency of the ANKRD11 gene. RESULTS: Here we describe two siblings with multiple symptoms characteristic of KBG and their mother with...
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| 出版年: | Mol Cytogenet |
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| 主要な著者: | , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
BioMed Central
2015
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4383199/ https://ncbi.nlm.nih.gov/pubmed/25838844 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-015-0126-7 |
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