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.
Article
em Zh
| WPRIM
| ID: wpr-879915
Biblioteca responsável:
WPRO
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
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Texto completo:
1
Base de dados:
WPRIM
Assunto principal:
Fenótipo
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Mutação da Fase de Leitura
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Feto Abortado
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Fatores de Transcrição Forkhead
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Pestanas
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Sequenciamento do Exoma
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Linfedema
Tipo de estudo:
Prognostic_studies
Limite:
Adult
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Female
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Humans
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Male
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Pregnancy
Idioma:
Zh
Revista:
Journal of Zhejiang University. Medical sciences
Ano de publicação:
2020
Tipo de documento:
Article