TP63 mutation in a patient with acro-dermo-ungual-lacrimal-tooth syndrome: Additional evidence of molecular overlap of the ADULT and EEC syndromes
Author:
Affiliation:
1. Department of Genetics; Research Unit; Institute of Ophthalmology “Conde de Valenciana”; Mexico City Mexico
2. Faculty of Medicine; Department of Biochemistry; UNAM; Mexico City Mexico
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference16 articles.
1. ADULT syndrome caused by a mutation previously associated with EEC syndrome;Avitan-Hersh;Pediatr Dermatol,2010
2. Analysis of the p63 gene in classical EEC syndrome, related syndromes and non-;Barrow;J Med Gen,2002
3. P63 gene mutations and human developmental syndromes;Brunner;Am J Med Genet,2002
4. p63 mutations are not a major cause of non-syndromic split hand/foot malformation;de Mollerat;J Med Genet A,2003
5. Common mutations in Arg304 of the p63 gene in ectrodactyly, ectodermal dysplasia, clefting syndrome: Lack of genotype-phenotype correlation and implications for mutation detection strategies;Hamada;J Invest Dermatol,2002
Cited by 3 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
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. 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
3. Preliminary report on screening IGSF3 gene mutation in families with congenital absence of lacrimal puncta and canaliculi;International Journal of Ophthalmology;2020-09-18
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