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Mowat-Wilson Syndrome as a Differential Diagnosis in Patients with Congenital Heart Defects and Dysmorphic Facies

Mowat-Wilson syndrome is a rare, autosomal dominant neurodevelopmental disorder characterized by distinctive facial gestalt and intellectual disability that is often associated with microcephaly, seizures and multiple congenital anomalies, mainly heart defects. More than 350 patients and 180 genetic...

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Detalles Bibliográficos
Autores principales: Pachajoa, Harry, Gomez-Pineda, Eidith, Giraldo-Ocampo, Sebastian, Lores, Juliana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9636884/
https://www.ncbi.nlm.nih.gov/pubmed/36345475
http://dx.doi.org/10.2147/PGPM.S380908