Article 6 Female 6 Humans 6 Mutation 6 clinical article female genetics 6 human 6 mutation high throughput sequencing 5 High-Throughput Nucleotide Sequencing 4 Pedigree 4 adult 4 case report 4 pedigree 4 Adult 3 Chinese 3 Male 3 Sanger sequencing 3 gene mutation 3 male 3 whole exome sequencing 3 Asian Continental Ancestry Group 2 Asian continental ancestry group 2 Base Sequence 2 China 2 DNA extraction 2 DNA sequence 2 Middle Aged 2 Whole Exome Sequencing 2