Clinical and whole-exome sequencing findings in two siblings from Hani ethnic minority with congenital glycosylation disorders.
Zhen ZhangTi-Long HuangJing MaWen-Ji HeHuai-Yu GuPublished in: BMC medical genetics (2019)
This is the first report to describe mutations in two siblings of Hani ethnic minority which is one of five ethnic groups found only in Yunnan with a population of more than 1 million.
Keyphrases