1.
Pediatr Dermatol
; 36(3): 372-376, 2019 May.
Artículo
en Inglés
| MEDLINE
| ID: mdl-30793783
RESUMEN
CEDNIK (CErebral Dysgenesis, Neuropathy, Ichthyosis, and Keratoderma) syndrome is a neuroichthyotic syndrome characterized by a constellation of clinical features including severe developmental retardation, microcephaly, and facial dysmorphism. Here, we report the first case of CEDNIK syndrome from India presenting with characteristic clinical features and harboring a novel mutation of SNAP29 gene.