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
27
페이지
1394 ~ 1394