Detection of <i>PTCH1</i> Copy-Number Variants in Mosaic Basal Cell Nevus Syndrome

Detection of <i>PTCH1</i> Copy-Number Variants in Mosaic Basal Cell Nevus Syndrome

Basal cell nevus syndrome (BCNS) is an inherited disorder characterized mainly by the development of basal cell carcinomas (BCCs) at an early age. BCNS is caused by heterozygous small-nucleotide variants (SNVs) and copy-number variants (CNVs) in the Patched1 (<i>PTCH1</i>) gene. Genetic...

Full description

Bibliographic Details
Main Authors: Guido M. J. M. Roemen, Tom E. J. Theunissen, Ward W. J. Hoezen, Anja R. M. Steyls, Aimee D. C. Paulussen, Klara Mosterd, Elisa Rahikkala, Axel zur Hausen, Ernst Jan M. Speel, Michel van Geel
Format: Article
Language:English
Published: MDPI AG 2024-01-01
Series:Biomedicines
Subjects:
basal cell nevus syndrome (BCNS)
<i>PTCH1</i>
MLPA
ddPCR
mosaicism
mosaic
Online Access:https://www.mdpi.com/2227-9059/12/2/330

Internet

https://www.mdpi.com/2227-9059/12/2/330

Similar Items