Literature DB >> 20156774

AEC syndrome caused by heterozygous mutation in the SAM domain of p63 gene.

Hana Tomková, Wataru Fujimoto, Takafumi Uchida, Jozef Macko, Renata Gaillyová, Hana Bucková.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2010        PMID： 20156774     DOI： 10.1684/ejd.2010.0931

Source DB:  PubMed          Journal:  Eur J Dermatol        ISSN： 1167-1122            Impact factor:   3.328


× No keyword cloud information.
  3 in total

1.  Ectodermal Dysplasia Showing the Clinical Overlap between Hay Wells Syndrome and Bowen Armstrong Syndrome.

Authors:  Andreea Liana Rachisan; Simona Cainap; Mariana Andreica; Nicolae Miu
Journal:  Iran J Pediatr       Date:  2011-03       Impact factor: 0.364

2.  Ankyloblepharon-ectodermal Defects-cleft Lip-palate Syndrome Due to a Novel Missense Mutation in the SAM Domain of the TP63 Gene.

Authors:  M Tajir; J Lyahyai; S Guaoua; M El Alloussi; A Sefiani
Journal:  Balkan J Med Genet       Date:  2020-08-26       Impact factor: 0.519

3.  Novel missense mutation of the TP63 gene in a newborn with Hay-Wells/Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) syndrome: clinical report and follow-up.

Authors:  Gregorio Serra; Vincenzo Antona; Mario Giuffré; Federica Li Pomi; Lucia Lo Scalzo; Ettore Piro; Ingrid Anne Mandy Schierz; Giovanni Corsello
Journal:  Ital J Pediatr       Date:  2021-09-28       Impact factor: 2.638
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.