| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 5907513 | Gene | 2012 | 6 Pages |
Abstract
⺠The p63, Dlx5 and Dlx6 transcription factors share a common functional pathway. ⺠p63-Dlx5/Dlx6 pathway dysregulation responsible for craniofacial and SHFM. ⺠Patient with deletion on chromosome 7q21.13-q21.3, including DLX5 and DLX6, and SHFM. ⺠Patient with a heterozygous missense mutation in TP63 and ectodermal dysplasia. ⺠Different diagnostic strategies to patients with SHFM and/or ectodermal dysplasia.
Keywords
SAMTP63AECCGHTransactivationDLXEECADMOFCLMSSHFMGTGPhytohemagglutininNCBIINVPHARHSDBDdCTPDSS1AERMRIISOIsomerizationInversionadultcomparative genomic hybridizationMagnetic resonance imagingcomputed tomographybase pairdeletiondeoxycytidine triphosphateDNA-Binding DomainDELapical ectodermal ridgeNational Center for Biotechnology Informationsterile alpha motifmegabasepolymerase chain reactionPCRkilobase
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Authors
Ascensión Vera-Carbonell, MarÃa Rosa Moya-Quiles, MarÃa Ballesta-MartÃnez, Vanesa López-González, Juan Antonio BafallÃu, Encarna Guillén-Navarro, Isabel López-Expósito,