Case report of bilateral ovarian fibromas associated with de novo germline variants in PTCH1 and SMARCA4
Author:
Affiliation:
1. Department of Genetic Medicine Johns Hopkins University Baltimore Maryland USA
2. Department of Pediatrics Johns Hopkins University Baltimore Maryland USA
3. Department of Pathology Johns Hopkins University Baltimore Maryland USA
Funder
National Institute of General Medical Sciences
Publisher
Wiley
Subject
Genetics (clinical),Genetics,Molecular Biology
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.2005
Reference29 articles.
1. Gorlin syndrome presenting with primary infertility and bilateral calcified ovarian fibromas
2. Ovarian Fibromas in Pediatric Patients With Basal Cell Nevus (Gorlin) Syndrome
3. Splicing in action: assessing disease causing sequence changes
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