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

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

Abstract 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 co...

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Bibliographic Details
Main Authors: Maryangel Perea‐Cabrera, Javier T. Granados‐Riveron, Begoña Segura‐Stanford, Liliana M. Moreno‐Vargas, Diego Prada‐Gracia, Mari C. Moran‐Espinosa, Julio Erdmenger, Hector Diaz‐Garcia, Rocío Sánchez‐Urbina
Format: Article
Language:English
Published: Wiley 2023-09-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
congenital heart defects
Opitz GBBB syndrome
total anomalous pulmonary venous connection
Online Access:https://doi.org/10.1002/mgg3.2234

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