Frequency of chromosome 22q11.2 deletion among newborns with non-syndromic congenital heart defects from western Mexico.

Gerardo E Fabián-Morales,Lucina Bobadilla-Morales,Christian Peña-Padilla, Rafael Nieto-García, Pascuala B Rivera-Ramírez,Alfredo Corona-Rivera, Aurea Márquez-Mora, Graciela Macías-Salcedo,Idalid Cuero-Quezada,Jorge R Corona-Rivera

Boletin medico del Hospital Infantil de Mexico（2022）

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摘要

Our results confirm the importance of excluding the presence of the 22q11.2 deletion in every NB with CHDs, particularly of the conotruncal subtype, even in the absence of other manifestations.

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Atresia pulmonar con comunicación interventricular,Bulbous nasal tip,Conotruncal defects,Defectos conotruncales,Pulmonary atresia with ventricular septal defect,Punta nasal bulbosa,Tetralogy of Fallot,Tetralogía de Fallot

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