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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...
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. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2020
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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 |
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