Cargando…

Laryngo-tracheal stenosis in a woman with ablepharon macrostomia syndrome

BACKGROUND: Ablepharon macrostomia syndrome (AMS) is a rare congenital malformation disorder caused by the autosomal-dominant mutations in gene TWIST2. Patients affected by the disease present abnormalities in ectoderm-derived structures mainly consisting in major facial dysmorphic features and rare...

Descripción completa

Detalles Bibliográficos
Autores principales: Ciriaco, Paola, Carretta, Angelo, Negri, Giampiero
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6712709/
https://www.ncbi.nlm.nih.gov/pubmed/31462237
http://dx.doi.org/10.1186/s12890-019-0921-8