A novel pathogenic germline chromosome 3 inversion in von Hippel-Lindau disease.

Chromosome Aberrations Gene Rearrangement Genetic Diseases, Inborn Human Genetics Urology

Journal

Journal of medical genetics
ISSN: 1468-6244
Titre abrégé: J Med Genet
Pays: England
ID NLM: 2985087R

Informations de publication

Date de publication:
24 Sep 2024
Historique:
received: 25 06 2024
accepted: 14 09 2024
medline: 25 9 2024
pubmed: 25 9 2024
entrez: 24 9 2024
Statut: aheadofprint

Résumé

von Hippel-Lindau (VHL) is an autosomal-dominant hereditary tumour susceptibility disease associated with pathogenic germline variants in the

Identifiants

DOI: 10.1136/jmg-2024-110202 PMID: 39317422
pubmed: 39317422
pii: jmg-2024-110202
doi: 10.1136/jmg-2024-110202
pii:
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Informations de copyright

© Author(s) (or their employer(s)) 2024. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.

Déclaration de conflit d'intérêts

Competing interests: None declared.

Auteurs

Cathy D Vocke (CD)

Urologic Oncology Branch, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.
ORCID: 0000-0002-9256-7607

Christopher J Ricketts (CJ)

Urologic Oncology Branch, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.

Svetlana Pack (S)

Laboratory of Pathology, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.

Mark Raffeld (M)

Laboratory of Pathology, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.

Stephen Hewitt (S)

Laboratory of Pathology, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.

Alexandra P Lebensohn (AP)

Cancer Genetic Branch, National Institutes of Health, Bethesda, Maryland, USA.

Lidenys O'Brien (L)

Urologic Oncology Branch, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.

Rabindra Gautam (R)

Urologic Oncology Branch, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.

Krista Reynolds (K)

Urologic Oncology Branch, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.

Laura S Schmidt (LS)

Urologic Oncology Branch, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.
Basic Science Program, Frederick National Laboratory for Cancer Research, Frederick, Maryland, USA.

Kristin Choo (K)

Urologic Oncology Branch, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.

Alex Kenigsberg (A)

Urologic Oncology Branch, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.

Sandeep Gurram (S)

Urologic Oncology Branch, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.

Emily Y Chew (EY)

Division of Epidemiology and Clinical Applications, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA.

Naris Nilubol (N)

Surgical Oncology Program, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.

Prashant Chittaboina (P)

Neurosurgery Unit for Pituitary and Inheritable Diseases, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.

Maria J Merino (MJ)

Laboratory of Pathology, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.

Mark W Ball (MW)

Urologic Oncology Branch, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.

W Marston Linehan (WM)

Urologic Oncology Branch, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA WML@nih.gov.
ORCID: 0000-0001-7983-3109

Classifications MeSH