(Last updated : 2021-11-15 16:01:02)
  Masuno Mitsuo
   Department     ,
   Position  
■ BooK
1. 2013/01   Down syndrome (trisomy 21 syndrome)「今日の治療指針 2013版」 
■ Journal
1. 2021/07/01 6p21.33 Deletion encompassing CSNK2B is associated with relative macrocephaly, facial dysmorphism, and mild intellectual disability. 
2. 2020/10 Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome. 
3. 2020/06 Tumor predisposition in an individual with chromosomal rearrangements of 1q31.2-q41 encompassing cell division cycle protein 73. 
4. 2020/03 Developmental delay and dysmorphic features in a girl with a de novo 5.4 Mb deletion of 13q12.11-q12.13. 
5. 2019/10/21 Novel USP9X variants in two patients with X-linked intellectual disability. 
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■ Presentation
1. 2018/10/19 Causative novel USP9X variants in two Japanese patients with X-linked intellectual disability.  
2. 2017/10/20 TMEPAI mutation causes MFS/LDS-like phenotypes in 2 Japanese families.  
3. 2016/04/04 Clinical and neuroimaging findings of an incomplete form of Moebius syndrome  
4. 2015/06/12 Brain imaging analysis in Moebius syndrome  
5. 2013/06/21 Genetic counseling documentation by FileMaker Pro 11  
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■ Belonging society
1. The European Society of Human Genetics