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Hereditary Trichilemmal Cysts are Caused by Two Hits to the Same Copy of the Phospholipase C Delta 1 Gene (PLCD1)

The autosomal dominant presentation of trichilemmal cysts is one of the most common single gene familial diseases in humans. However, the genetic basis for the inheritance and genesis of these lesions has remained unknown. We first studied patients with multiple trichilemmal cysts using exome and Sa...

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Detalles Bibliográficos
Autores principales: Kolodney, Michael S., Coman, Garrett C., Smolkin, Matthew B., Hagen, Rachael, Katzman, Jacob A., Katzman, Steven N, Holliday, Alex C., Kolodney, Joanna A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7138793/
https://www.ncbi.nlm.nih.gov/pubmed/32265483
http://dx.doi.org/10.1038/s41598-020-62959-z