FINCA syndrome-Defining neurobehavioral phenotype in survivors into late childhood.
Mol Genet Genomic Med
; 10(4): e1899, 2022 04.
Article
em En
| MEDLINE
| ID: mdl-35255187
ABSTRACT
We report for the first time a novel missense variant in NHLRC2. We extend the NHLRC2 gene associated neuropsychological and neuroimaging phenotype, and propose that the NHLRC2 gene should be considered in patients with symptoms of atypical Rett syndrome. We also summarise currently available literature on neuropsychological symptoms in children with FINCA who survived into late childhood.
Texto completo:
1
Bases de dados:
MEDLINE
Assunto principal:
Síndrome de Rett
Limite:
Child
/
Humans
Idioma:
En
Revista:
Mol Genet Genomic Med
Ano de publicação:
2022
Tipo de documento:
Article
País de afiliação:
Polônia