Recurrent

Founder Effect Genetics

Journal

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

Informations de publication

Date de publication:
01 Sep 2023
Historique:
received: 26 05 2023
accepted: 21 08 2023
medline: 2 9 2023
pubmed: 2 9 2023
entrez: 1 9 2023
Statut: aheadofprint

Résumé

We identified six patients from five families with a recurrent mutation: NM_000059.3 (

Identifiants

DOI: 10.1136/jmg-2023-109430 PMID: 37657917
pubmed: 37657917
pii: jmg-2023-109430
doi: 10.1136/jmg-2023-109430
pii:
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Informations de copyright

© Author(s) (or their employer(s)) 2023. No commercial re-use. See rights and permissions. Published by BMJ.

Déclaration de conflit d'intérêts

Competing interests: None declared.

Auteurs

Rachel Hodan (R)

Cancer Genetics, Stanford Health Care, Stanford, California, USA rhodan@stanfordhealthcare.org.
Department of Pediatrics (Genetics), Stanford University School of Medicine, Stanford, California, USA.
ORCID: 0000-0003-2887-4079

Kerry Kingham (K)

Cancer Genetics, Stanford Health Care, Stanford, California, USA.
Department of Pediatrics (Genetics), Stanford University School of Medicine, Stanford, California, USA.

Allison W Kurian (AW)

Department of Medicine, Stanford University School of Medicine, Stanford, California, USA.
Department of Epidemiology and Population Health, Stanford University School of Medicine, Stanford, California, USA.

Classifications MeSH