Split hand-foot malformation and a novel WNT10B mutation

• Main Authors: Piranit Nik Kantaputra, Seema Kapoor, Prashant Verma, Worrachet Intachai, James R. Ketudat Cairns
• Format: Journal
• Published: 2018
• Subjects: Biochemistry, Genetics and Molecular Biology; Medicine
• Online Access: https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85041954589&origin=inward; http://cmuir.cmu.ac.th/jspui/handle/6653943832/58236
• Institution: Chiang Mai University

© 2018 Elsevier Masson SAS We report an Indian girl with split-hand/foot malformation (SHFM), sparse hair, and interrupted eyebrows, who carries a novel homozygous deletion c.695_697delACA in WNT10B. The variant is deduced to cause an in-frame deletion of Asn residue 232 (p.Asn232del). According to...