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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| Main Authors: | , , , , |
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| Format: | Journal |
| Published: |
2018
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| Subjects: | |
| 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 |