2022年11月10日 · MYRF-related cardiac urogenital syndrome (MYRF-CUGS) is primarily characterized by anomalies of the internal and external genitalia, congenital heart defects, and …

2022年11月10日 · Clinical characteristics: MYRF-related cardiac urogenital syndrome (MYRF-CUGS) is primarily characterized by anomalies of the internal and external genitalia, …

心脏-泌尿生殖综合征 (cardiac-urogenital syndrome，CUGS) (OMIM #618280)是由 MYRF 基因 (OMIM*608329)的杂合变异所致，主要的临床表现包括心血管畸形、泌尿生殖系统畸形和先天 …

2024年11月14日 · MYRF-related cardiac-urogenital syndrome (MYRF-CUGS) is a rare condition associated with heterozygous MYRF variants. The description of MYRF-CUGS phenotype is …

心脏-泌尿生殖综合征，也称为cugs，与myrf相关的心脏-泌尿生殖综合征和pagod综合征有关。 与心脏-泌尿生殖综合征有关的重要基因是MYRF（髓鞘调节因子）。

2025年1月9日 · Cardiac-Urogenital Syndrome (CUGS) is a recently identified genetic disease characterized by urogenital, diaphragmatic, ophthalmic, and cardiac abnormalities caused by …

收集胎儿的临床资料，应用低深度全基因组测序 (CNV-seq)和家系全外显子组测序 (trio-WES)技术对胎儿及其父母进行遗传学分析，对候选变异进行Sanger测序家系验证。 结果:胎儿超声心动 …

MYRF-related cardiac urogenital syndrome (MYRF-CUGS) is characterized by anomalies of the internal and external genitalia, congenital heart defects, and eye anomalies. 46,XY individuals …

This suggests that MYRF-CUGS may be an underrecognized cause of birth defects and should be considered in the differential diagnosis when multisystemic involvement is seen prenatally. …

2025年1月9日 · Anomalous origin of the left coronary artery from the pulmonary artery (ALCAPA) is a rare congenital coronary abnormality with a high degree of morbidity and mortality not …