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
de Zh
| WPRIM
| ID: wpr-879915
Bibliothèque responsable:
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
Mots clés
Texte intégral:
1
Indice:
WPRIM
Sujet Principal:
Phénotype
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Mutation avec décalage du cadre de lecture
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Foetus avorté
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Facteurs de transcription Forkhead
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Cils
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Exome Sequencing
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Lymphoedème
Type d'étude:
Prognostic_studies
Limites du sujet:
Adult
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Female
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Humans
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Male
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Pregnancy
langue:
Zh
Texte intégral:
Journal of Zhejiang University. Medical sciences
Année:
2020
Type:
Article