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Rare Variants in the Notch Signaling Pathway Describe a Novel Type of Autosomal Recessive Klippel–Feil Syndrome
Klippel–Feil syndrome is a rare disorder represented by a subgroup of segmentation defects of the vertebrae and characterized by fusion of the cervical vertebrae, low posterior hairline, and short neck with limited motion. Both autosomal dominant and recessive inheritance patterns were reported in f...
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| 出版年: | Am J Med Genet A |
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| 主要な著者: | , , , , , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
2015
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4837953/ https://ncbi.nlm.nih.gov/pubmed/26238661 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.37263 |
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