Severe Unilateral Microtia with Aural Atresia, Hair White Patch, Stereotypes in a Young Boy with De novo 16p13.11 Deletion: Reasons for a New Genotype–Phenotype Correlation

Background  Microtia is an uncommon congenital malformation ranging from mild anatomic structural abnormalities to partial or complete absence of the ear leading to hearing impairment. Congenital microtia may present as a single malformation (isolated microtia) or sometimes associated with other con...

Descripción completa

Detalles Bibliográficos
Autores principales: Pavone, Piero, Pappalardo, Xena Giada, Parano, Claudia, Parano, Enrico, Corsello, Antonio, Ruggieri, Martino, Cacciaguerra, Giovanni, Falsaperla, Raffaele
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Georg Thieme Verlag KG 2023
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10695706/
http://dx.doi.org/10.1055/s-0043-1777362

Ejemplares similares

Ejemplares similares