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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.
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2020
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| Materias: | |
| 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 |