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

Notarangelo Luigi D.

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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

机译：扩大免疫缺陷骨骼发育不良的谱：一种关于一种新型脊柱癫痫发育不良鉴定的评论。

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来源
《Journal of human genetics》 |2017年第8期|共2页
作者
Notarangelo Luigi D.;
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作者单位

NIAID Host Def Lab Div Intramural Res NIH 9000 Rockville Pike Bethesda MD 20892 USA;

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原文格式 PDF
正文语种 eng
中图分类医学遗传学;
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1. 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 [J] . Notarangelo Luigi D. Journal of human genetics . 2017,第8期

机译：扩大免疫缺陷骨骼发育不良的谱：一种关于一种新型脊柱癫痫发育不良鉴定的评论。
2. Broadening the phenotypic spectrum of POP1 POP1 ‐skeletal dysplasias: identification of POP1 POP1 mutations in a mild and severe skeletal dysplasia [J] . Barraza‐García J., Rivera‐Pedroza C.I., Hisado‐Oliva A., Clinical Genetics: An International Journal of Genetics in Medicine . 2017,第1期

机译：扩大pop1 pop1 -skskeletal dysplasias的表型谱：在轻度和严重骨骼发育不良中的pop1 pop1突变的鉴定
3. A novel biallelic loss‐of‐function mutation in TMCO1 TMCO1 gene confirming and expanding the phenotype spectrum of cerebro‐facio‐thoracic dysplasia [J] . Sharkia Rajech, Zalan Abdelnaser, Jabareen‐Masri Azhar, American journal of medical genetics, Part A . 2019,第7期

机译：TMCO1 TMCO1基因的新型双胞胎功能突变证实和扩展了脑筋膜发育不良的表型谱
4. 3D Visualisation of the Radiological Features of Type II Collagenopathies associated with Skeletal Dysplasias [C] . Theodor Wyeld, Andreas Zankl International Conference on BioMedical Visualization . 2008

机译：与骨骼发育不良相关的II型胶原病的放射性特征的3D可视化
5. Thermodynamics of receptor tyrosine kinase dimerization in model mammalian membranes: Determining the molecular basis behind cancers and skeletal dysplasias. [D] . Placone, Jesse Kenneth. 2013

机译：模型哺乳动物膜中受体酪氨酸激酶二聚化的热力学：确定癌症和骨骼发育不良背后的分子基础。
6. 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 [O] . Luigi D Notarangelo -1

机译：具有免疫缺陷的骨骼发育异常的范围扩大：一种新型脊柱上-表皮-phy骨发育不良中双等位基因EXTL3突变鉴定的评论
7. 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 [O] . Luigi D Notarangelo 2017

机译：扩大免疫缺陷的骨骼发育不良光谱：一种关于脊髓型突出性异常性发育不良鉴定的评论

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

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