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The first case of infantile-onset multisystem neurologic, endocrine, and pancreatic disease caused by novel PTRH2 mutation in Japan.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Mar 2022

Ando Masahiro, Higuchi Yujiro, Takeuchi Mika, Hashiguchi Akihiro, Takashima Hiroshi

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PMID: 35028776
DOI: 10.1007/s10072-021-05817-8

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