A New Aberration in the VPS33B Gene Leads to Full-Symptom ARCS1

Patient: Male, newborn Final Diagnosis: ARCS1 Symptoms: Cholestasis and/or gallbladder dysfunction Medication: — Clinical Procedure: — Specialty: Pediatrics and Neonatology OBJECTIVE: Rare disease BACKGROUND: ARCS1 is an acronym for arthrogryposis, renal dysfunction, and cholestasis. It is a congeni...

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Detalles Bibliográficos
Autores principales: Adamczyk-Gruszka, Olga, Horecka-Lewitowicz, Agata, Zmelonek-Znamirowska, Anna, Gruszka, Jakub, Koziel, Dorota, Lewitowicz, Piotr
Formato: Online Artículo Texto
Lenguaje:English
Publicado: International Scientific Literature, Inc. 2021
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8455109/
https://www.ncbi.nlm.nih.gov/pubmed/34531360
http://dx.doi.org/10.12659/AJCR.932769

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8455109/
https://www.ncbi.nlm.nih.gov/pubmed/34531360
http://dx.doi.org/10.12659/AJCR.932769

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