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Article

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

Scientific reports - 7 Apr 2020

Kolodney Michael S, Coman Garrett C, Smolkin Matthew B, Hagen Rachael, Katzman Jacob A, Katzman Steven N, Holliday Alex C, Kolodney Joanna A

Abstract excerpt

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 Sanger sequencing. Remarkably, 21 of 21 trichilemmal cysts from 16 subjects all harbored a somatic p.S745L...

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Identifiers

PMID: 32265483
DOI: 10.1038/s41598-020-62959-z
PMCID: PMC7138793

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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