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Opitz GBBB syndrome with total anomalous pulmonary venous connection: A new MID1 gene variant

BACKGROUND: Opitz GBBB syndrome (GBBB) is an X‐linked disease characterized by midline defects, including congenital heart defects. We present our diagnostic approach to the identification of GBBB in a consanguineous family in which two males siblings were concordant for a total anomalous connection...

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Detalles Bibliográficos
Autores principales: Perea‐Cabrera, Maryangel, Granados‐Riveron, Javier T., Segura‐Stanford, Begoña, Moreno‐Vargas, Liliana M., Prada‐Gracia, Diego, Moran‐Espinosa, Mari C., Erdmenger, Julio, Diaz‐Garcia, Hector, Sánchez‐Urbina, Rocío
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10496055/
https://www.ncbi.nlm.nih.gov/pubmed/37498300
http://dx.doi.org/10.1002/mgg3.2234