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Cleft Palate and Aortic Dilatation as Clues for Loeys–Dietz Syndrome

Loeys–Dietz syndrome (LDS) is a rare autosomal-dominant disorder of the connective tissue with some typical vascular findings, skeletal manifestations, craniofacial features, and cutaneous findings with a wide phenotypic spectrum. Six different genes are involved in LDS and the diagnosis is based on...

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Detalles Bibliográficos
Autores principales: Zaza, Pierluigi, Indrio, Flavia, Fracchiolla, Annalisa, Rinaldi, Matteo, Meliota, Giovanni, Salatto, Alessia, Bonacaro, Antonio, Maffei, Gianfranco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9497579/
https://www.ncbi.nlm.nih.gov/pubmed/36138598
http://dx.doi.org/10.3390/children9091290