Identification and In Silico Characterization of a Novel <i>COLGALT2</i> Gene Variant in a Child with Mucosal Rectal Prolapse

Identification and In Silico Characterization of a Novel <i>COLGALT2</i> Gene Variant in a Child with Mucosal Rectal Prolapse

Rectal prolapse is influenced by many factors including connective tissue dysfunction. Currently, there is no data about genetic contribution in the etiology of this disorder. In this study, we performed trio whole-exome sequencing in an 11-year-old girl with mucosal rectal prolapse and her parents...

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Bibliographic Details
Main Authors: Anna Sadakierska-Chudy, Paweł Szymanowski, Arleta Lebioda, Rafał Płoski
Format: Article
Language:English
Published: MDPI AG 2022-03-01
Series:International Journal of Molecular Sciences
Subjects:
collagen glycosylation
<i>COLGALT2</i> gene
GTL25D2 protein
in silico prediction tools
rectal prolapse
Sanger sequencing
Online Access:https://www.mdpi.com/1422-0067/23/7/3670

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