A double mutation including a novel mutation of SLC9A9 gene and mosaic mutation of PORCN gene in a male patient with multiple congenital anomalies, intellectual disability, and autism spectrum disorder
A double mutation including a novel mutation of SLC9A9 gene and mosaic mutation of PORCN gene in a male patient with multiple congenital anomalies, intellectual disability, and autism spectrum disorder
复制标题
患有多种先天性异常、智力障碍和自闭症谱系障碍的男性患者的双重突变，包括 SLC9A9 基因的新突变和 PORCN 基因的嵌合突变
DOI：
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发表时间：
2016
期刊：
影响因子：
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通讯作者：
K. Kurosawa
中科院分区：
文献类型：
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作者：
M. Minatogawa;C. Abe;T. Yokoi;Y. Enomoto;K. Ida;Y. Tsurusaki;N. Harada;T. Naruto;K. Kurosawa
