Intermediate Phenotype between ADULT Syndrome and EEC Syndrome Caused by R243Q Mutation in TP63
Author:
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
Surgery,Surgery
Reference9 articles.
1. Heterozygous Germline Mutations in the p53 Homolog p63 Are the Cause of EEC Syndrome
2. ADULT-syndrome: An autosomal-dominant disorder with pigment anomalies, ectrodactyly, nail dysplasia, and hypodontia
3. CLEFT PALATE, HARE LIP, DACRYOCYSTITIS, AND CLEFT HAND AND FEET
4. Ectrodactyly (split-hand/split-foot) and ectodermal dysplasia with normal lip and palate in a four-generation kindred
5. 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
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1. Case report: ADULT syndrome: a rare case of congenital lacrimal duct abnormality;Frontiers in Genetics;2023-10-18
2. 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
3. Absent meibomian glands and cone dystrophy in ADULT syndrome: identification by whole exome sequencing of pathogenic variants in two causal genes TP63 and CNGB3;Ophthalmic Genetics;2023-05-09
4. Spontaneous resolution of nonimmune hydrops fetalis in a fetus with TP63 gene mutation and LZTR1 gene variants;Clinical Case Reports;2021-08
5. 2b or Not 2b: How Opposing FGF Receptor Splice Variants Are Blocking Progress in Precision Oncology;Journal of Oncology;2021-04-30
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