Tracheal agenesis versus tracheal atresia: anatomical conditions, pathomechanisms and causes with a possible link to a novel MAPK11 variant in one case

Tracheal agenesis versus tracheal atresia: anatomical conditions, pathomechanisms and causes with a possible link to a novel MAPK11 variant in one case

Abstract Background In this study we aimed to describe the morphological and pathogenetic differences between tracheal agenesis and tracheal atresia, which are not clearly distinguished from each other in the literature, and to contribute thereby to the understanding and management of these conditio...

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Bibliographic Details
Main Authors: Mateja Pfeifer, Helga Rehder, Maria Gerykova Bujalkova, Christine Bartsch, Barbara Fritz, Cordula Knopp, Björn Beckers, Frank Dohle, Matthias Meyer-Wittkopf, Roland Axt-Fliedner, Alexander V. Beribisky, Manuel Hofer, Franco Laccone, Katharina Schoner
Format: Article
Language:English
Published: BMC 2024-03-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Tracheal agenesis
Tracheal atresia
Congenital high airway obstruction sequence (CHAOS)
VACTERL association
Sirenomelia
MAPK11 variant
Online Access:https://doi.org/10.1186/s13023-024-03106-z

Internet

https://doi.org/10.1186/s13023-024-03106-z

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