Detection of

CNV MLPA PTCH1 basal cell nevus syndrome (BCNS) ddPCR mosaic mosaicism

Journal

Biomedicines
ISSN: 2227-9059
Titre abrégé: Biomedicines
Pays: Switzerland
ID NLM: 101691304

Informations de publication

Date de publication:
31 Jan 2024
Historique:
received: 28 12 2023
revised: 20 01 2024
accepted: 24 01 2024
medline: 24 2 2024
pubmed: 24 2 2024
entrez: 24 2 2024
Statut: epublish

Résumé

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 (

Identifiants

DOI: 10.3390/biomedicines12020330 PMID: 38397932
pubmed: 38397932
pii: biomedicines12020330
doi: 10.3390/biomedicines12020330
pii:
doi:

Types de publication

Journal Article

Langues

eng

Auteurs

Guido M J M Roemen (GMJM)

Department of Pathology, Maastricht University Medical Center, 6229 HX Maastricht, The Netherlands.
GROW School for Oncology and Reproduction, Maastricht University, 6229 ER Maastricht, The Netherlands.

Tom E J Theunissen (TEJ)

Department of Pathology, Maastricht University Medical Center, 6229 HX Maastricht, The Netherlands.
GROW School for Oncology and Reproduction, Maastricht University, 6229 ER Maastricht, The Netherlands.

Ward W J Hoezen (WWJ)

Department of Dermatology, Maastricht University Medical Center, 6229 HX Maastricht, The Netherlands.

Anja R M Steyls (ARM)

Department of Clinical Genetics, Maastricht University Medical Center, 6229 HX Maastricht, The Netherlands.

Aimee D C Paulussen (ADC)

GROW School for Oncology and Reproduction, Maastricht University, 6229 ER Maastricht, The Netherlands.
Department of Clinical Genetics, Maastricht University Medical Center, 6229 HX Maastricht, The Netherlands.
ORCID: 0000-0002-1661-7625

Klara Mosterd (K)

GROW School for Oncology and Reproduction, Maastricht University, 6229 ER Maastricht, The Netherlands.
Department of Dermatology, Maastricht University Medical Center, 6229 HX Maastricht, The Netherlands.

Elisa Rahikkala (E)

Research Unit of Clinical Medicine, Department of Clinical Genetics, Medical Research Center Oulu, Oulu University Hospital, University of Oulu, 90570 Oulu, Finland.

Axel Zur Hausen (A)

Department of Pathology, Maastricht University Medical Center, 6229 HX Maastricht, The Netherlands.
GROW School for Oncology and Reproduction, Maastricht University, 6229 ER Maastricht, The Netherlands.

Ernst Jan M Speel (EJM)

Department of Pathology, Maastricht University Medical Center, 6229 HX Maastricht, The Netherlands.
GROW School for Oncology and Reproduction, Maastricht University, 6229 ER Maastricht, The Netherlands.
ORCID: 0000-0002-3016-2989

Michel van Geel (M)

GROW School for Oncology and Reproduction, Maastricht University, 6229 ER Maastricht, The Netherlands.
Department of Dermatology, Maastricht University Medical Center, 6229 HX Maastricht, The Netherlands.
Department of Clinical Genetics, Maastricht University Medical Center, 6229 HX Maastricht, The Netherlands.

Classifications MeSH