Haploinsufficiency of PHF21A due to frameshift and nonsense mutations causes syndromic autism including intellectual disability, craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems

  • Kim, H.; 
  • Rosenfeld, J. A.; 
  • Scott, D. A.; 
  • Benedicte, G.; 
  • Labonne, J. D.; 
  • ... Kong, I.; 
  • 외 18명
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제목
Haploinsufficiency of PHF21A due to frameshift and nonsense mutations causes syndromic autism including intellectual disability, craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems
저자
Kim, H.; Rosenfeld, J. A.; Scott, D. A.; Benedicte, G.; Labonne, J. D.; Brown, J.; McGuire, M.; Mahida, S.; Naidu, S.; Gutierrez, J.; Lesca, G.; Portes, V. D.; Bruel, A.; Sorlin, A.; Xia, F.; Capri, Y.; Muller, E.; McKnight, D.; Torti, E.; Layman, L. C.; Ryu, D.; Kong, I.; Madan-Khetarpal, S.; Kim, C.
발행일
2019-10
유형
Meeting Abstract
저널명
European Journal of Human Genetics
권
27
페이지
1394 ~ 1394