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Two patients with PNKP mutations presenting with microcephaly, seizure, and oculomotor apraxia
Author(s) -
TaniguchiIkeda M.,
Morisada N.,
Inagaki H.,
Ouchi Y.,
Takami Y.,
Tachikawa M.,
Satake W.,
Kobayashi K.,
Tsuneishi S.,
Takada S.,
Yamaguchi H.,
Nagase H.,
Nozu K.,
Okamoto N.,
Nishio H.,
Toda T.,
Morioka I.,
Wada H.,
Kurahashi H.,
Iijima K.
Publication year - 2018
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.13106
Subject(s) - microcephaly , neuroscience , genetics , medicine , psychology , pediatrics , biology