Whole exome sequencing in an Indian family links Coats plus syndrome and dextrocardia with a homozygous novel CTC1 and a rare HES7 variation
印度一个家族的全外显子组测序结果显示,Coats plus 综合征和右位心与一种纯合的新型 CTC1 基因和一种罕见的 HES7 基因变异有关。
期刊:BMC Medical Genetics
影响因子:
doi:10.1186/s12881-015-0151-8
Netravathi, Manjunath; Kumari, Renu; Kapoor, Saketh; Dakle, Pushkar; Dwivedi, Manish Kumar; Roy, Sumitabho Deb; Pandey, Paritosh; Saini, Jitender; Ramakrishna, Anil; Navalli, Devaraddi; Satishchandra, Parthasarathy; Pal, Pramod Kumar; Kumar, Arun; Faruq, Mohammed