Molecular evidence that AEC syndrome and Rapp-Hodgkin syndrome are variable expression of a single genetic disorder
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference12 articles.
1. Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27;Ianakiev;Am J Hum Genet,2000
2. H. Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63;McGrath;Hum Mol Genet,2001
3. TP63 gene mutation in ADULT syndrome;Amiel;Eur J Hum Genet,2001
4. p63 gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation;Van Bokhoven;Am J Hum Genet,2001
5. Splitting p63;Van Bokhoven;Am J Hum Genet,2002
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2. Hay-Wells Syndrome: the challenges of a nine-year follow-up;Anais Brasileiros de Dermatologia;2024-08
3. Ectodermal Dysplasia – An Overview and Update;Indian Dermatology Online Journal;2024-04-23
4. 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
5. Disease-related p63 DBD mutations impair DNA binding by distinct mechanisms and varying degree;Cell Death & Disease;2023-04-18
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