Genetic analysis and clinical phenotype of a family with lymphedema-distichiasis syndrome / 浙江大学学报·医学版
Journal of Zhejiang University. Medical sciences
;
(6): 581-585, 2020.
Artigo
em Chinês
| WPRIM
| ID: wpr-879915
ABSTRACT
OBJECTIVE@#To identify the genetic causes of a family with lymphedema-distichiasis syndrome (LDS).@*METHODS@#The whole exome sequencing was performed in a aborted fetus as the proband, and a candidate gene was identified. Peripheral blood of 8 family members were collected. Genotypic-phenotypic analysis were carried out through PCR amplification and Sanger sequencing.@*RESULTS@#The proband, and the mother, grandmother, uncle, granduncle of the proband all had distichiasis or varix of lower limb carried a @*CONCLUSIONS@#The
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Fenótipo
/
Mutação da Fase de Leitura
/
Feto Abortado
/
Fatores de Transcrição Forkhead
/
Pestanas
/
Sequenciamento do Exoma
/
Linfedema
Tipo de estudo:
Estudo prognóstico
Limite:
Adulto
/
Feminino
/
Humanos
/
Masculino
/
Gravidez
Idioma:
Chinês
Revista:
Journal of Zhejiang University. Medical sciences
Ano de publicação:
2020
Tipo de documento:
Artigo
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