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Haploinsufficiency of PHF21A due to frameshift and nonsense mutations causes syndromic autism including intellectual disability, craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems
- Authors
- 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.
- Issue Date
- Oct-2019
- Publisher
- Natue Publishing Group
- Citation
- European Journal of Human Genetics, v.27, pp 1394 - 1394
- Pages
- 1
- Indexed
- SCI
SCIE
SCOPUS
- Journal Title
- European Journal of Human Genetics
- Volume
- 27
- Start Page
- 1394
- End Page
- 1394
- ISSN
- 1018-4813
1476-5438
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