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Gene Copy Number Quantification of SHOX, VAMP7, and SRY for the Detection of Sex Chromosome Aneuploidies in Neonates.
Genetic Testing and Molecular Biomarkers ( IF 1.4 ) Pub Date : 2020-06-04 , DOI: 10.1089/gtmb.2019.0226 Marisol Ibarra-Ramírez 1 , José de Jesús Lugo-Trampe 1 , Luis Daniel Campos-Acevedo 1 , Michelle Zamudio-Osuna 1 , Iris Torres-Muñoz 1 , Viviana Gómez-Puente 1 , Gloria García-Castañeda 1 , Patricia Arredondo-Vázquez 2 , Irám Pablo Rodríguez-Sánchez 1 , S Elisa Schaeffer 3 , Braulio Hernán Velasco-Sepúlveda 1 , Jesús Zacarías Villarreal-Pérez 4 , Laura Elia Martínez-de-Villarreal 1
Genetic Testing and Molecular Biomarkers ( IF 1.4 ) Pub Date : 2020-06-04 , DOI: 10.1089/gtmb.2019.0226 Marisol Ibarra-Ramírez 1 , José de Jesús Lugo-Trampe 1 , Luis Daniel Campos-Acevedo 1 , Michelle Zamudio-Osuna 1 , Iris Torres-Muñoz 1 , Viviana Gómez-Puente 1 , Gloria García-Castañeda 1 , Patricia Arredondo-Vázquez 2 , Irám Pablo Rodríguez-Sánchez 1 , S Elisa Schaeffer 3 , Braulio Hernán Velasco-Sepúlveda 1 , Jesús Zacarías Villarreal-Pérez 4 , Laura Elia Martínez-de-Villarreal 1
Affiliation
Aims: To explore the feasibility of detecting sex chromosome aneuploidies (SCAs) by means of gene copy number quantification of short stature homeobox (SHOX), vesicle-associated membrane protein 7 (VAMP7), and SRY in newborns.
中文翻译：
SHOX，VAMP7和SRY的基因拷贝数定量，用于检测新生儿的性染色体非整倍性。
目的：探讨通过矮身形同源盒（ SHOX），囊泡相关膜蛋白7（ VAMP7）和SRY的基因拷贝数定量检测新生儿性染色体非整倍性（SCA）的可行性。
更新日期：2020-06-04
中文翻译：
SHOX，VAMP7和SRY的基因拷贝数定量，用于检测新生儿的性染色体非整倍性。
目的：探讨通过矮身形同源盒（ SHOX），囊泡相关膜蛋白7（ VAMP7）和SRY的基因拷贝数定量检测新生儿性染色体非整倍性（SCA）的可行性。
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