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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...
| Autores principales: | , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2023
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| 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 |