Double gonosomal mosaicism as an unusual hereditary mechanism in familial

Genetics Neurology Pediatrics

Journal

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

Informations de publication

Date de publication:
31 Jul 2024
Historique:
received: 03 05 2024
accepted: 17 07 2024
medline: 1 8 2024
pubmed: 1 8 2024
entrez: 31 7 2024
Statut: aheadofprint

Résumé

We aim to describe double gonosomal mosaicism in the

Identifiants

pubmed: 39084904
pii: jmg-2024-110101
doi: 10.1136/jmg-2024-110101
pii:
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Informations de copyright

© Author(s) (or their employer(s)) 2024. No commercial re-use. See rights and permissions. Published by BMJ.

Déclaration de conflit d'intérêts

Competing interests: None declared.

Auteurs

Valentina Cetica (V)

Paediatric Neurology Unit and Laboratories, Neuroscience Department, Member of ERN Epicare and ITHACA, Meyer Children's Hospital IRCCS, Florence, Italy.

Mara Cavallin (M)

Paediatric Neurology Unit and Laboratories, Neuroscience Department, Member of ERN Epicare and ITHACA, Meyer Children's Hospital IRCCS, Florence, Italy.

Maria Luisa Ricci (ML)

Paediatric Neurology Unit and Laboratories, Neuroscience Department, Member of ERN Epicare and ITHACA, Meyer Children's Hospital IRCCS, Florence, Italy.

Claudia Mandorlini (C)

Paediatric Neurology Unit and Laboratories, Neuroscience Department, Member of ERN Epicare and ITHACA, Meyer Children's Hospital IRCCS, Florence, Italy.

Emanuele Bartolini (E)

Department of Developmental Neuroscience, IRCCS Foundation Stella Maris, Pisa, Italy.

Elena Parrini (E)

Paediatric Neurology Unit and Laboratories, Neuroscience Department, Member of ERN Epicare and ITHACA, Meyer Children's Hospital IRCCS, Florence, Italy.

Renzo Guerrini (R)

Paediatric Neurology Unit and Laboratories, Neuroscience Department, Member of ERN Epicare and ITHACA, Meyer Children's Hospital IRCCS, Florence, Italy renzo.guerrini@meyer.it.
University of Florence, Florence, Italy.

Classifications MeSH