Molecular basis of EEC (ectrodactyly, ectodermal dysplasia, clefting) syndrome: five new mutations in the DNA-binding domain of the TP63 gene and genotype-phenotype correlation
Author:
Publisher
Wiley
Subject
Dermatology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2133.2009.09496.x/fullpdf
Reference49 articles.
1. A mutation of the p63 gene in non-syndromic cleft lip;Leoyklang;J Med Genet,2006
2. P63 gene mutations and human developmental syndromes;Brunner;Am J Med Genet,2002
3. The Rapp-Hodgkin syndrome results from mutations of the TP63 gene;Bougeard;Eur J Hum Genet,2003
4. Association of ectrodactyly, ectodermal dysplasia, and cleft lip-palate;Rudiger;Am J Dis Child,1970
5. EEC syndrome: report on 20 new patients, clinical and genetic considerations;Rodini;Am J Med Genet,1990
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1. 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
2. A newborn with ectrodactyly, tetralogy of Fallot, esophageal atresia, hypospadias and TP63 gene mutation: A new type of EEC Syndrome?;Journal of Neonatal-Perinatal Medicine;2023-06-27
3. Innovative Therapeutic Approaches for the Treatment of the Ocular Morbidities in Patients with EEC Syndrome;Cells;2023-02-02
4. Identification of a novel heterozygous missense TP63 variant in a Chinese pedigree with split-hand/foot malformation;BMC Medical Genomics;2022-07-13
5. p63 in corneal and epidermal differentiation;Biochemical and Biophysical Research Communications;2022-06
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