A Novel VPS33B Variant Identified by Exome Sequencing in a Patient with Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome

Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare autosomal recessive multisystemic disease that is associated with the liver, kidney, skin, and central nervous and musculoskeletal systems. ARC occurs as a result of mutations in the VPS33B (Vacuolar protein sorting 33 homolog B)...

Descripción completa

Detalles Bibliográficos
Autores principales: Lee, Min Ju, Suh, Chae Ri, Shin, Jeong Hee, Lee, Jee Hyun, Lee, Yoon, Eun, Baik-Lin, Yoo, Kee Hwan, Shim, Jung Ok
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6856508/
https://www.ncbi.nlm.nih.gov/pubmed/31777725
http://dx.doi.org/10.5223/pghn.2019.22.6.581

Ejemplares similares

Ejemplares similares