1.
J Pediatr
; 225: 275, 2020 10.
Artículo
en Inglés
| MEDLINE
| ID: mdl-32504618
2.
J Pediatr
; 193: 261-264.e1, 2018 02.
Artículo
en Inglés
| MEDLINE
| ID: mdl-29198538
RESUMEN
We report a case of nonfatal junctional epidermolysis bullosa and pyloric atresia in a newborn. We identified a substitution (c.914C>T) for the integrin ß4 gene that has been associated with favorable outcome. A novel mutation (c.2011T>G) of unknown significance was also found in this patient who is now thriving.