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...

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Détails bibliographiques
Auteurs principaux: 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
Langue:English
Publié: MDPI AG 2024-01-01
Collection:Biomedicines
Sujets:
basal cell nevus syndrome (BCNS)
<i>PTCH1</i>
MLPA
ddPCR
mosaicism
mosaic
Accès en ligne:https://www.mdpi.com/2227-9059/12/2/330

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

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