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Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH)
- Shin Hayashi,
- Daniela Tiaki Uehara,
- Kousuke Tanimoto,
- Seiji Mizuno,
- Yasutsugu Chinen,
- Shinobu Fukumura,
- Jun-ichi Takanashi,
- Hitoshi Osaka,
- Nobuhiko Okamoto,
- Johji Inazawa
![PLOS](/resource/img/logo-plos.png)
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- Published: August 7, 2017
- https://doi.org/10.1371/journal.pone.0181791