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Clinical Features of Arthrogryposis, Renal Dysfunction and Cholestasis (ARC) Syndrome

Specialty:

Genetics

Objective:

ICD-10:

Description:

Arthrogryposis, Renal Dysfunction and Cholestasis (ARC) Syndrome is a rare multisystemic disorder that presents at birth or infancy. The mutation protein is involved in the regulation of vesicle-to-target SNARE complex formation and membrane fusion.

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