A case series of a mother and two daughters with a GLI2 gene deletion demonstrating variable expressivity and incomplete penetrance.
Clin Case Rep
; 8(11): 2138-2144, 2020 Nov.
Article
en En
| MEDLINE
| ID: mdl-33235745
ABSTRACT
This case series and review of the literature support that patients with pathogenic variants of the GLI2 gene demonstrate an autosomal dominant inheritance pattern, variable expressivity, and incomplete penetrance.
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1
Colección:
01-internacional
Base de datos:
MEDLINE
Idioma:
En
Revista:
Clin Case Rep
Año:
2020
Tipo del documento:
Article