Associated Papers
PTRH2: an adhesion regulated molecular switch at the nexus of life, death, and differentiation.
Corpuz AD et al.
Cell Death Discovery, 2020
Phenotype variability of infantile-onset multisystem neurologic, endocrine, and pancreatic disease IMNEPD.
Picker-Minh S et al.
Orphanet Journal of Rare Diseases, 2016
Mutations in PTRH2 cause novel infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, and muscle weakness.
Hu H et al.
Annals of Clinical and Translational Neurology, 2014
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