Cutaneous mastocytosis in a child with a de novo GNB1 mutation.
Pediatr Dermatol
; 39(2): 328-329, 2022 Mar.
Article
en En
| MEDLINE
| ID: mdl-35119134
ABSTRACT
In the last few years, de novo mutations in the GNB1 gene have been found to cause a neurodevelopmental disorder typically characterized by global developmental delay and hypotonia. Only 4 cases of maculopapular cutaneous mastocytosis in children with GNB1 mutations have been reported to date. Here, we describe another case of the condition with concomitant cutaneous mastocytosis.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Urticaria Pigmentosa
/
Mastocitosis Cutánea
/
Subunidades beta de la Proteína de Unión al GTP
/
Trastornos del Neurodesarrollo
Tipo de estudio:
Diagnostic_studies
Límite:
Child
/
Humans
Idioma:
En
Revista:
Pediatr Dermatol
Año:
2022
Tipo del documento:
Article
País de afiliación:
Estados Unidos