A case series of a mother and two daughters with a GLI2 gene deletion demonstrating variable expressivity and incomplete penetrance

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.

Detalles Bibliográficos
Autores principales: Elward, Cameron, Berg, Janet, Oberlin, John M., Rohena, Luis
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7669391/
https://www.ncbi.nlm.nih.gov/pubmed/33235745
http://dx.doi.org/10.1002/ccr3.3085

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7669391/
https://www.ncbi.nlm.nih.gov/pubmed/33235745
http://dx.doi.org/10.1002/ccr3.3085

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