e-Article
Collectrin gene screening in Turner syndrome patients with kidney malformation.
Document Type
Article
Author
Source
Subject
*GENETIC testing
*GLYCOPROTEINS
*TURNER'S syndrome
*KIDNEY abnormalities
*LYMPHEDEMA
*NUCLEOTIDE sequence
*GENOTYPE-environment interaction
*PHENOTYPES
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Language
ISSN
0022-1333
Abstract
The article discusses a study on collectrin genetic screening of patients with Turner syndrome (TS) and kidney malformation. Clinical features of the syndrome are mentioned, including lymphedema. The hepatocyte nuclear factor 1beta (HNF1B) gene in a group of patients carrying the renal phenotype was sequenced to determine a genotype-phenotype correlation in TS. Participants in the study underwent oral glucose tolerance test aimed at assessing their glucose metabolism.