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Causative novel PNKP mutations and concomitant PCDH15 mutations in a patient with microcephaly with early-onset seizures and developmental delay syndrome and hearing loss

✍ Scribed by Nakashima, Mitsuko; Takano, Kyoko; Osaka, Hitoshi; Aida, Noriko; Tsurusaki, Yoshinori; Miyake, Noriko; Saitsu, Hirotomo; Matsumoto, Naomichi

Book ID: 127192374
Publisher: Nature Publishing Group
Year: 2014
Tongue: English
Weight: 315 KB
Volume: 59
Category: Article
ISSN: 1435-232X
DOI: 10.1038/jhg.2014.51

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