Laryngo-tracheal stenosis in a woman with ablepharon macrostomia syndrome

Abstract 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...

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Bibliographic Details
Main Authors: Paola Ciriaco, Angelo Carretta, Giampiero Negri
Format: Article
Language:English
Published: BMC 2019-08-01
Series:BMC Pulmonary Medicine
Subjects:
Online Access:http://link.springer.com/article/10.1186/s12890-019-0921-8