RESUMEN

Meconium ileus is caused by cystic fibrosis; however, mutations in the GUCY2C gene also cause this disease. We report non-cystic fibrosis meconium ileus in an infant of non-Middle Eastern origin with compound heterozygous mutations in GUCY2C.

Asunto(s)

Secuenciación del Exoma , Íleo Meconial/genética , Mutación Missense , Receptores de Enterotoxina/genética , Heterocigoto , Humanos , Recién Nacido , Masculino