Expanding the spectrum of skeletal dysplasia with immunodeficiency: a commentary on identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia.
作者信息
Notarangelo Luigi D
机构信息
Laboratory of Host Defenses, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
出版信息
J Hum Genet. 2017 Aug;62(8):737-738. doi: 10.1038/jhg.2017.47. Epub 2017 Apr 27.
Abstract
摘要
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Expanding the spectrum of skeletal dysplasia with immunodeficiency: a commentary on identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia.扩展伴有免疫缺陷的骨骼发育异常谱：关于一种新型脊柱 - 骨骺 - 干骺端发育异常中双等位基因EXTL3突变鉴定的评论
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本文引用的文献
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Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia.鉴定一种新型脊椎-干骺端-骨骺发育不良中的 EXTL3 基因双等位基因突变。
J Hum Genet. 2017 Aug;62(8):797-801. doi: 10.1038/jhg.2017.38. Epub 2017 Mar 23.
2
mutations cause skeletal dysplasia, immune deficiency, and developmental delay.突变会导致骨骼发育不良、免疫缺陷和发育迟缓。
J Exp Med. 2017 Mar 6;214(3):623-637. doi: 10.1084/jem.20161525. Epub 2017 Feb 1.
3
Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.EXTL3基因的突变导致神经免疫骨骼发育不良综合征。
Am J Hum Genet. 2017 Feb 2;100(2):281-296. doi: 10.1016/j.ajhg.2017.01.013. Epub 2017 Jan 26.
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Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015.原发性免疫缺陷病：国际免疫学会联盟原发性免疫缺陷病专家委员会2015年分类更新
J Clin Immunol. 2015 Nov;35(8):696-726. doi: 10.1007/s10875-015-0201-1. Epub 2015 Oct 19.
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Fibroblast growth factor receptor signaling crosstalk in skeletogenesis.成骨细胞生成中碱性成纤维细胞生长因子受体信号转导串扰。
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