1.
Indian Pediatr
; 50(5): 510-2, 2013 May 08.
Artículo
en Inglés
| MEDLINE
| ID: mdl-23778732
RESUMEN
We present clinical features and genetic diagnosis in an Indian infant diagnosed with Johanson- Blizzard syndrome. This is a rare, autosomal recessive genetic condition with multi-system involvement and a characteristic facies. Molecular genetic testing is important to confirm the clinical diagnosis and offer prenatal diagnosis in future pregnancies.