Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 1 de 1
Filtrar
Adicionar filtros








Intervalo de ano
1.
Artigo em Chinês | WPRIM | ID: wpr-879546

RESUMO

OBJECTIVE@#To explore the genetic basis for a child featuring unexplained rapid growth and heart malformation.@*METHODS@#Whole exome sequencing (WES)was carried out for the patient. Suspected variant was verified by Sanger sequencing and subjected to bioinformatic analysis.@*RESULTS@#The child was found to harbor a novel de novo c.5846_5848delATA (p. N1949del) variant in exon 48 of the FBN1 gene, which was predicted to be pathogenic by Mutation Taster. The patient was ultimately diagnosed with Marfan syndrome.@*CONCLUSION@#Above finding has enriched the spectrum of genetic variants associated with Marfan syndrome. WES has provided a powerful tool for the diagnosis of rare diseases.


Assuntos
Criança , Humanos , Éxons , Fibrilina-1/genética , Cardiopatias Congênitas , Síndrome de Marfan/genética , Mutação , Deleção de Sequência , Sequenciamento do Exoma
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA