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

Details

Ressource 1Download: 36905089.pdf (1518.72 [Ko])
State: Public
Version: Final published version
License: CC BY-NC-ND 4.0
Serval ID
serval:BIB_1128EDF4C0B9
Type
Article: article from journal or magazin.
Collection
Publications
Institution
UNIL/CHUV
Title
Developmental disorder and spastic paraparesis in two sisters with a TCF7L2 truncating variant inherited from a mosaic mother.
Journal
American journal of medical genetics. Part A
Author(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
Publication state
Published
Issued date
06/2023
Peer-reviewed
Oui
Volume
191
Number
6
Pages
1658-1663
Language
english
Notes
Publication types: Letter
Publication Status: ppublish
Keywords
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
Yes
Create date
20/03/2023 10:56
Last modification date
10/02/2024 7:18
Usage data