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-Reference-Cited by-同舟云学术

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

Published:2011-10-11 Issue:11 Volume:155 Page:2746-2749
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Prontera Paolo,Garelli Emanuela,Isidori Ilenia,Mencarelli Amedea,Carando Adriana,Silengo Margherita Cirillo,Donti Emilio

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference21 articles.

1. TP63 gene mutation in ADULT syndrome;Amiel;Eur J Hum Genet,2001

2. ADULT syndrome caused by a mutation previously associated with EEC syndrome;Avitan-Hersh;Pediatr Dermatol,2010

3. Analysis of the p63 gene in classical EEC syndrome, related syndromes, and non-syndromic orofacial clefts;Barrow;J Med Genet,2002

4. Molecular evidence that AEC syndrome and Rapp-Hodgkin syndrome are variable expressions of a single genetic disorder;Bertola;Clin Genet,2004

5. Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome;Celli;Cell,1999

Cited by 21 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. 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. Overlap between EEC and AEC syndrome and immunodeficiency in a preterm infant with a TP63 variant;European Journal of Medical Genetics;2023-05

5. Novel Phenotype Caused by a TP63 Variant: Overlapping EEC and AEC Features with Immunodeficiency and Enlargement of Left Cardiac Compartments in a Very Preterm Infant;SSRN Electronic Journal;2022