Article Female Humans 7 Mutation 7 female 7 genetics 7 human mutation clinical article 6 high throughput sequencing 6 High-Throughput Nucleotide Sequencing 5 adult 5 Male 4 Pedigree 4 case report 4 gene mutation 4 male 4 pedigree 4 Adult 3 Chinese 3 Middle Aged 3 Sanger sequencing 3 aged 3 follow up 3 middle aged 3 pathology 3 whole exome sequencing 3 Aged 2 Asian Continental Ancestry Group 2 Asian continental ancestry group 2