Further evidence of involvement of ITSN1 in autosomal dominant neurodevelopmental disorder.
Clin Genet
; 105(4): 455-456, 2024 04.
Article
em En
| MEDLINE
| ID: mdl-38346866
ABSTRACT
A 5-year-old affected male had following phenotypes autism, motor stereotypy, developmental regression, staring gaze, absent speech, and behavioral abnormality. The biochemical testing was normal and genetic testing identified a de novo pathogenic variant in ITSN1 gene in the proband. To our knowledge, this is the second report that elucidates the role of ITSN1 gene in an autosomal dominant neurodevelopmental disorder.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Transtorno Autístico
Limite:
Child, preschool
/
Humans
/
Male
Idioma:
En
Revista:
Clin Genet
/
Clin. genet
/
Clinical genetics
Ano de publicação:
2024
Tipo de documento:
Article
País de afiliação:
Estados Unidos