A Novel Missense Variant of TP63 Heterozygously Present in Split-Hand/Foot Malformation
Background. Split-hand/foot malformation (SHFM) is a severe congenital disability mainly characterized by the absence or hypoplasia of the central ray of the hand/foot. To date, several candidate genes associated with SHFM have been identified, including TP63, DLX5, DLX6, FGFR1, and WNT10B. Herein,...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Hindawi Limited
2020-01-01
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| Series: | BioMed Research International |
| Online Access: | http://dx.doi.org/10.1155/2020/4215632 |