Split hand-foot malformation and a novel WNT10B mutation

Split hand-foot malformation and a novel WNT10B mutation

© 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...

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Bibliographic Details
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
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Institution: Chiang Mai University

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https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85041954589&origin=inward
http://cmuir.cmu.ac.th/jspui/handle/6653943832/58236

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