학술논문
Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia
Document Type
Article
Author
Calame, D.G.; Herman, I.; Emrick, L.T.; Pehlivan, D.; Fatih, J.M.; Mitani, T.; Du, H.; Grochowski, C.M.; Gijavanekar, C.; Sutton, V.R.; Coban-Akdemir, Z.; Posey, J.E.; Elsea, S.H.; Marafi, D.; Lupski, J.R.; Hunter, J.V.; Maroofian, R.; Rocca, C.; Houlden, H.; Marshall, A.E.; Ito, Y.A.; Boycott, K.M.; Osmond, M.; Kernohan, K.D.; Donis, K.C.; Silva, T.O.; Morales Saute, J.A.; Sousa, S.B.; Bakhtiari, S.; Kruer, M.C.; Lossos, A.; Fellig, Y.; Prus, E.; Kalish, Y.; Meiner, V.; Suerink, M.; Ruivenkamp, C.; Muirhead, K.; Vanderver, A.; Saadi, N.W.; Zaki, M.S.; Bouman, A.; Barakat, T.S.; Skidmore, D.L.; 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.; Travaglini, L.; Nicita, F.; Jhangiani, S.N.; Gibbs, R.A.
Source
In: Annals of Neurology . (Annals of Neurology, August 2022, 92(2):304-321)
Subject
Language
English
ISSN
15318249
03645134
03645134