产前黏多糖贮积症VII型：在基因中鉴定出一种新型致病变异体。
Prenatal mucopolysaccharidosis VII: A novel pathogenic variant identified in gene.
作者信息
Poyatos-Andújar Antonio Miguel, García-Linares Susana, Carretero Pilar, Ocon Olga, Fresneda Dolores, Gort Laura, Molina García Francisa Sonia
机构信息
UGC de Laboratorios Laboratorio de Genética Hospital Universitario San Cecilio Granada Spain.
Department of Obstetrics and Gynecology Hospital Universitario San Cecilio Instituto de Investigación Biosanitaria IBS Granada Spain.
出版信息
Clin Case Rep. 2020 Dec 11;9(2):790-795. doi: 10.1002/ccr3.3644. eCollection 2021 Feb.
Clinical exome sequencing is a powerful approach to overcome the wide clinical and genetic heterogeneity of mucopolysaccharidosis. These data could be useful for prenatal diagnosis of MPS VII, genetic counseling, and preimplantation genetic testing.
临床外显子组测序是克服黏多糖贮积症广泛临床和遗传异质性的一种有效方法。这些数据对于黏多糖贮积症VII型的产前诊断、遗传咨询和植入前基因检测可能有用。
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