Developmental disorder and spastic paraparesis in two sisters with a TCF7L2 truncating variant inherited from a mosaic mother.

Détails

Ressource 1Télécharger: 36905089.pdf (1518.72 [Ko])
Etat: Public
Version: Final published version
Licence: CC BY-NC-ND 4.0
ID Serval
serval:BIB_1128EDF4C0B9
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
UNIL/CHUV
Titre
Developmental disorder and spastic paraparesis in two sisters with a TCF7L2 truncating variant inherited from a mosaic mother.
Périodique
American journal of medical genetics. Part A
Auteur⸱e⸱s
Royer-Bertrand B., Lebon S., Craig A., Maeder J., Mittaz-Crettol L., Fodstad H., Superti-Furga A., Good J.M.
ISSN
1552-4833 (Electronic)
ISSN-L
1552-4825
Statut éditorial
Publié
Date de publication
06/2023
Peer-reviewed
Oui
Volume
191
Numéro
6
Pages
1658-1663
Langue
anglais
Notes
Publication types: Letter
Publication Status: ppublish
Mots-clé
Female, Child, Humans, Paraparesis, Spastic/diagnosis, Paraparesis, Spastic/genetics, Mothers, Developmental Disabilities, Phenotype, Spastic Paraplegia, Hereditary, Transcription Factor 7-Like 2 Protein
URN
urn:nbn:ch:serval-BIB_1128EDF4C0B98
OAI-PMH
oai:serval.unil.ch:BIB_1128EDF4C0B9
DOI
10.1002/ajmg.a.63173
Pubmed
36905089
Web of science
000947848400001
Open Access
Oui
Création de la notice
20/03/2023 11:56
Dernière modification de la notice
10/02/2024 8:18
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