Literature DB >> 29243230

Two patients with PNKP mutations presenting with microcephaly, seizure, and oculomotor apraxia.

M Taniguchi-Ikeda1,2, N Morisada3, H Inagaki4, Y Ouchi4, Y Takami5, M Tachikawa6, W Satake6, K Kobayashi6, S Tsuneishi7, S Takada8, H Yamaguchi9, H Nagase1, K Nozu1, N Okamoto10, H Nishio11, T Toda2,6, I Morioka1, H Wada12, H Kurahashi4, K Iijima1.   

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Year:  2017        PMID： 29243230     DOI： 10.1111/cge.13106

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  2 in total

1.  Ataxia with Oculomotor Apraxia Type 4 with PNKP Common "Portuguese" and Novel Mutations in Two Belarusian Families.

Authors:  Galina E Rudenskaya; Andrey V Marakhonov; Olga A Shchagina; Ekaterina R Lozier; Elena L Dadali; Irina A Akimova; Nika V Petrova; Fedor A Konovalov
Journal:  J Pediatr Genet       Date:  2019-03-27

2.  Mutations of the DNA repair gene PNKP in a patient with microcephaly, seizures, and developmental delay (MCSZ) presenting with a high-grade brain tumor.

Authors:  Bingcheng Jiang; Cameron Murray; Bonnie L Cole; J N Mark Glover; Gordon K Chan; Jean Deschenes; Rajam S Mani; Sudip Subedi; John D Nerva; Anthony C Wang; Christina M Lockwood; Heather C Mefford; Sarah E S Leary; Jeffery G Ojemann; Michael Weinfeld; Chibawanye I Ene
Journal:  Sci Rep       Date:  2022-03-30       Impact factor: 4.379
  2 in total

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