Disease Severity in Familial Dysautonomia

Authors

Studer, Lorenz

Zeltner, Nadja

Description

Description from dbGaP: "Familial Dysautonomia (FD) is a developmental and degenerative genetic disease that manifests in the neural crest cells and peripheral nervous system (PNS). Despite all FD patients having the same mutation in IKBKAP, patients present with varying disease severity, ranging from mild to severe. We used the human pluripotent stem cell technology to recapitulate this varying...

Subject

Dysautonomia, Familial

Peripheral Nervous System

Pluripotent Stem Cells

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