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

Subjects

Subjects :
GENETIC mutation
MICROCEPHALY

Details

Language :
English
ISSN :
00099163
Volume :
93
Issue :
4
Database :
Complementary Index
Journal :
Clinical Genetics
Publication Type :
Academic Journal
Accession number :
128483180
Full Text :
https://doi.org/10.1111/cge.13106