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.
Artículo
en Chino
| 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:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Fenotipo
/
Mutación del Sistema de Lectura
/
Feto Abortado
/
Factores de Transcripción Forkhead
/
Pestañas
/
Secuenciación del Exoma
/
Linfedema
Tipo de estudio:
Estudio pronóstico
Límite:
Adulto
/
Femenino
/
Humanos
/
Masculino
/
Embarazo
Idioma:
Chino
Revista:
Journal of Zhejiang University. Medical sciences
Año:
2020
Tipo del documento:
Artículo
Similares
MEDLINE
...
LILACS
LIS