A novel c.1037C > G (p.Ala346Gly) mutation in TP63 as cause of the ectrodactyly-ectodermal dysplasia and cleft lip/palate (EEC) syndrome
Author:
Affiliation:
1. Universidade de São Paulo, Brazil
2. Grupo Educacional UNIESP, Brazil
Publisher
FapUNIFESP (SciELO)
Subject
Genetics,Molecular Biology
Link
http://www.scielo.br/pdf/gmb/v38n1/1415-4757-gmb-38-1-37.pdf
Reference36 articles.
1. ADULT syndrome caused by a mutation previously associated with EEC syndrome;Avitan-Hersh E;Pediatr Dermatol,2010
2. ADULT syndrome due to an R243W mutation in TP63;Berk DR;Int J Dermatol,2012
3. Differential altered stability and transcriptional activity of ΔNp63 mutants in distinct ectodermal dysplasias;Browne G;J Cell Sci,2011
4. A newborn with overlapping features of AEC and EEC syndromes;Celik TH;Am J Med Genet A,2011
5. Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome;Celli J;Cell,1999
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1. A novel de novo TP63 mutation in whole‐exome sequencing of a Syrian family with Oral cleft and ectrodactyly;Molecular Genetics & Genomic Medicine;2023-04-18
2. Four cases with ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome: Clinical evaluation and management and literature review;Trends in Pediatrics;2023
3. A Novel de novo TP63 Mutation in Whole Exome Sequencing of a Syrian Family with Oral Cleft and Ectrodactyly;2022-02-15
4. Orofacial Closure Defects: Forty-Five Genes Associated Cleft Lip and Palate;Precision Medicine and Clinical OMICS;2021-07-31
5. Identification of a novel TP63 mutation causing nonsyndromic cleft lip with or without cleft palate;BMC Medical Genomics;2021-02-23
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