Agnathia-Otocephaly Complex Due to a De Novo Deletion in the OTX2 Gene

Agnathia-otocephaly complex (AOC) is a rare and usually lethal malformation typically characterized by hypoplasia or the absence of the mandible, ventromedial and caudal displacement of the ears with or without the fusion of the ears, a small oral aperture with or without a tongue hypoplasia. Its in...

Descripción completa

Detalles Bibliográficos
Autores principales: Fabiani, Marco, Libotte, Francesco, Margiotti, Katia, Tannous, Dina Khader Issa, Sparacino, Davide, D’Aleo, Maria Pia, Monaco, Francesca, Dello Russo, Claudio, Mesoraca, Alvaro, Giorlandino, Claudio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9778614/
https://www.ncbi.nlm.nih.gov/pubmed/36553536
http://dx.doi.org/10.3390/genes13122269

Ejemplares similares

Ejemplares similares