EEC-LM-ADULT syndrome caused by R319H mutation in TP63 with ectrodactyly, syndactyly, and teeth anomaly
Author:
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
General Medicine
Reference10 articles.
1. Intermediate phenotype between ADULT syndrome and EEC Syndrome Caused by R243Q Mutation in TP63;Otsuki;Plast Reconstr Surg Glob Open,2016
2. Mutations in the p53 homolog p63: allele-specific developmental syndromes in humans;van Bokhoven;Trends Mol Med,2002
3. Splitting p63;van Bokhoven;Am J Hum Genet,2002
4. Cleft palate and ADULT phenotype in a patient with a novel TP63 mutation suggests lumping of EEC/LM/ADULT syndromes into a unique entity: ELA syndrome;Prontera;Am J Med Genet A,2011
5. Molecular evidence that AEC syndrome and Rapp-Hodgkin syndrome are variable expression of a single genetic disorder;Bertola;Clin Genet,2004
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1. A spectrum of TP63-related disorders with eight affected individuals in five unrelated families;European Journal of Medical Genetics;2024-04
2. Case report: ADULT syndrome: a rare case of congenital lacrimal duct abnormality;Frontiers in Genetics;2023-10-18
3. A Family with EEC Syndrome in the Son and ADULT Syndrome in His Father Caused by the c.797G>A (p.Arg266Gln) Pathogenic Variant in the TP63 Gene;Molecular Syndromology;2023-08-18
4. Overlap between EEC and AEC syndrome and immunodeficiency in a preterm infant with a TP63 variant;European Journal of Medical Genetics;2023-05
5. 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
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