Case report of bilateral ovarian fibromas associated with de novo germline variants in PTCH1 and SMARCA4.

Tomoyasu HigashimotoChristy Haakonsen SmithMark R HopkinsJohn GrossDeyin XingJae W LeeTraevia MorrisJoann Bodurtha

Published in: Molecular genetics & genomic medicine (2022)

To our knowledge, this is the first report of bilateral benign ovarian fibroma in a child with a diagnosis of nevoid basal cell carcinoma syndrome (NBCCS) with a potential predisposition to Rhabdoid Tumor Predisposition Syndrome (RTPS).

Keyphrases

case report
basal cell carcinoma
healthcare
mental health
copy number
dna repair
gene expression
oxidative stress
dna methylation
risk assessment
climate change