Lissencephaly With Cerebellar Hypoplasia Due To a New RELN Mutation.
Pediatr Neurol
; 149: 137-140, 2023 Dec.
Article
em En
| MEDLINE
| ID: mdl-37879138
ABSTRACT
Lissencephaly with cerebellar hypoplasia (LCH) is a rare variant form of lissencephaly, its distinctive neuroradiological phenotype being an important investigation clue regarding the potential involved genes, including variants in RELN gene. We report on a case of LCH whose clinical and neuroradiological features led to the identification of a homozygous pathogenic variant in RELN gene that has not been previously reported in the scientific literature.
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Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Lisencefalia
/
Malformações do Sistema Nervoso
Limite:
Humans
Idioma:
En
Revista:
Pediatr Neurol
Assunto da revista:
NEUROLOGIA
/
PEDIATRIA
Ano de publicação:
2023
Tipo de documento:
Article