Identification and In Silico Characterization of a Novel COLGALT2 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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Detalles Bibliográficos
Autores principales: Sadakierska-Chudy, Anna, Szymanowski, Paweł, Lebioda, Arleta, Płoski, Rafał
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8999070/
https://www.ncbi.nlm.nih.gov/pubmed/35409030
http://dx.doi.org/10.3390/ijms23073670

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8999070/
https://www.ncbi.nlm.nih.gov/pubmed/35409030
http://dx.doi.org/10.3390/ijms23073670

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