Humans 12 clinical article female human 12 Article 11 genetics 11 Female 10 male 9 Male 8 high throughput sequencing 8 adult 7 High-Throughput Nucleotide Sequencing 6 Mutation 6 Pedigree 6 mutation 6 nucleotide sequence 6 pedigree 6 Adult 5 Base Sequence 5 case report 5 controlled study 5 China 4 Sanger sequencing 4 aged 4 gene 4 gene mutation 4 human tissue 4 middle aged 4 whole exome sequencing 4 Aged 3