Cenani-Lenz syndactyly syndrome - a case report of a family with isolated syndactyly

• Main Authors: Hettiaracchchi, D, Bonnard, C, Jayawardana, S.M.A, Ng, A.Y.J, Tohari, S, Venkatesh, B, Reversade, B, Singaraja, R, Dissanayake, V.H.W
• 其他作者: MEDICINE
• 格式: Article
• 出版: 2020
• 主題: adolescent; adult; Article; autosomal recessive disorder; bilateral postaxial oligodactyly; bone radiography; case report; Cenani Lenz syndactyly syndrome; clinical article; face dysmorphia; female; finger malformation; gene; genetic variability; germline mutation; heterozygote; homozygote; human; LRP4 gene; male; Sanger sequencing; Sri Lanka; Sri Lankan; syndactyly; whole exome sequencing; young adult; abnormalities; consanguinity; finger; genetics; mutation; pedigree; radius; synostosis; toe; ulna; Adolescent; Adult; Consanguinity; Female; Fingers; Homozygote; Humans; Male; Mutation; Pedigree; Radius; Syndactyly; Synostosis; Toes; Ulna; Young Adult
• 在線閱讀: https://scholarbank.nus.edu.sg/handle/10635/181189

10.1186/s12881-018-0646-1