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Exome sequencing reveals a novel splice site variant in HUWE1 gene in patients with suspected Say-Meyer Syndrome
Say-Meyer syndrome is a rare and clinically heterogeneous syndrome characterized by trigonocephaly, short stature, developmental delay and hypotelorism. Nine patients with this syndrome have been reported thus far although no causative gene has yet been identified. Here, we report two siblings with...
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| 出版年: | Eur J Med Genet |
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| 主要な著者: | , , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
2019
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6974397/ https://ncbi.nlm.nih.gov/pubmed/30797980 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ejmg.2019.02.007 |
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