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
in Chinese
| 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
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Phenotype
/
Frameshift Mutation
/
Aborted Fetus
/
Forkhead Transcription Factors
/
Eyelashes
/
Exome Sequencing
/
Lymphedema
Type of study:
Prognostic study
Limits:
Adult
/
Female
/
Humans
/
Male
/
Pregnancy
Language:
Chinese
Journal:
Journal of Zhejiang University. Medical sciences
Year:
2020
Type:
Article
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