Juberg-Hayward syndrome and Roberts syndrome are allelic, caused by mutations in ESCO2

• Main Authors: Piranit Nik Kantaputra, Prapai Dejkhamron, Sissades Tongsima, Chumpol Ngamphiw, Worrachet Intachai, Lukana Ngiwsara, Phannee Sawangareetrakul, Jisnuson Svasti, Bjorn Olsen, James R.Ketudat Cairns, Kanokkan Bumroongkit
• 格式: 雜誌
• 出版: 2020
• 主題: Biochemistry, Genetics and Molecular Biology; Dentistry; Medicine
• 在線閱讀: https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85091234313&origin=inward; http://cmuir.cmu.ac.th/jspui/handle/6653943832/70159
• 機構: Chiang Mai University

© 2020 Elsevier Ltd Objective: Juberg-Hayward syndrome (JHS; MIM 216100) is a rare autosomal recessive malformation syndrome, characterized by cleft lip/palate, microcephaly, ptosis, hypoplasia or aplasia of thumbs, short stature, dislocation of radial head, and fusion of humerus and radius leading...