A novel mutation in VPS33B gene causing a milder ARC syndrome phenotype with prolonged survival

INTRODUCTION: ARC (arthrogryposis, renal dysfunction, and cholestasis) syndrome is an uncommon multisystem disorder that entails a very poor prognosis. It is caused by mutations in either VPS33B or VIPAS39 gene, both playing a key role in intracellular trafficking. We report two siblings born to fir...

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Detalles Bibliográficos
Autores principales: del Brío Castillo, Rodrigo, Squires, James E., McKiernan, Patrick J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2019
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6498830/
https://www.ncbi.nlm.nih.gov/pubmed/31240160
http://dx.doi.org/10.1002/jmd2.12027

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6498830/
https://www.ncbi.nlm.nih.gov/pubmed/31240160
http://dx.doi.org/10.1002/jmd2.12027

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