New Insights on the Genetic Basis Underlying SHILCA Syndrome: Characterization of the NMNAT1 Pathological Alterations Due to Compound Heterozygous Mutations and Identification of a Novel Alternative Isoform.
Int J Mol Sci
; 22(5)2021 Feb 24.
Article
em En
| MEDLINE
| ID: mdl-33668384
Palavras-chave
Leber congenital amaurosis (LCA); developmental delay; hypomyelination; inherited retinal diseases; macular coloboma; nicotinamide mononucleotide adenylyltransferase 1 (NMNAT1); sensorineural hearing loss; spondylo-epiphyseal dysplasia; spondylo-epiphyseal dysplasia, sensorineural hearing loss, intellectual disability and Leber congenital amaurosis (SHILCA); transcriptional alteration
Texto completo:
1
Coleções:
01-internacional
Temas:
Geral
Base de dados:
MEDLINE
Assunto principal:
Osteocondrodisplasias
/
Amaurose Congênita de Leber
/
Perda Auditiva Neurossensorial
/
Deficiência Intelectual
/
Nicotinamida-Nucleotídeo Adenililtransferase
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Child, preschool
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Int J Mol Sci
Ano de publicação:
2021
Tipo de documento:
Article
País de afiliação:
Espanha