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Biallelic Variants in the ectonucleotidase ENTPD1 cause a complex neurodevelopmental disorder with intellectual disability, distinct white matter abnormalities, and spastic paraplegia
- All authors
- Calame, D.G.; Herman, I.; Maroofian, R.; Marshall, A.E.; Donis, K.C.; Fatih, J.M.; Mitani, T.; H.W. du; Grochowski, C.M.; Sousa, S.B.; Gijavanekar, C.; Bakhtiari, S.; Ito, Y.A.; Rocca, C.; Hunter, J.V.; Sutton, V.R.; Emrick, L.T.; Boycott, K.M.; Lossos, A.; Fellig, Y.; Prus, E.; Kalish, Y.; Meiner, V.; Suerink, M.; Ruivenkamp, C.; Muirhead, K.; Saadi, N.W.; Zaki, M.S.; Bouman, A.; Barakat, T.S.; Skidmore, D.L.; Osmond, M.; Silva, T.O.; Murphy, D.; Karimiani, E.G.; Jamshidi, Y.; Jaddoa, A.G.; Tajsharghi, H.; Jin, S.C.; Abbaszadegan, M.R.; Ebrahimzadeh-Vesal, R.; Hosseini, S.; Alavi, S.; Bahreini, A.; Zarean, E.; Salehi, M.M.; Al-Sannaa, N.A.; Zifarelli, G.; Bauer, P.; Robson, S.C.; Coban-Akdemir, Z.; Travaglini, L.; Nicita, F.; Jhangiani, S.N.; Gibbs, R.A.; Posey, J.E.; Kruer, M.C.; Kernohan, K.D.; Saute, J.A.M.; Houlden, H.; Vanderver, A.; Elsea, S.H.; Pehlivan, D.; Marafi, D.; Lupski, J.R.
- Date
- 2022-05-28
- Journal
- Annals of Neurology
- Volume
- 92
- Issue
- 2
- Pages
- 304 - 321