关键词: Brachydactyly CCNA2-CDK2 Intellectual disability Retinitis pigmentosa SCAPER
Mesh : Adolescent Adult Carrier Proteins / genetics Child Consanguinity DNA Mutational Analysis Female Genetic Association Studies / methods Genetic Predisposition to Disease Humans Male Middle Aged Mutation Pedigree Phenotype Young Adult
来 源: DOI:10.1002/ajmg.a.61202 PDF(Sci-hub) PDF(Pubmed)