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A healthy individual with a homozygous PTCH2 frameshift variant: Are variants of PTCH2 associated with nevoid basal cell carcinoma syndrome?

Variants in PTCH2 have been described to be associated with Nevoid Basal Cell Carcinoma Syndrome (NBCCS). We report a family with a healthy female who is homozygous for a frameshift variant, c.269delG, p.(Gly90Alafs*4), in PTCH2 and her heterozygous daughter. The variant predicts a frameshift and a...

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Detalles Bibliográficos
Autores principales:	Altaraihi, M., Wadt, K., Ek, J., Gerdes, A. M., Ostergaard, E.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2019
Materias:	Data Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6384928/ https://www.ncbi.nlm.nih.gov/pubmed/30820324 http://dx.doi.org/10.1038/s41439-019-0041-2

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