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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...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley & Sons, Inc.
2019
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| Materias: | |
| 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 |