Biallelic variants in the ectonucleotidase ENTPD1 cause a complex neurodevelopmental disorder with intellectual disability, hypomyelination, and spastic paraplegia
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| Veröffentlicht in: | Annals of neurology 2022-05, Vol.92 (2), p.304-321 |
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| creator | Calame, Daniel G. Herman, Isabella Marshall, Aren E. Maroofian, Reza Donis, Karina Carvalho Fatih, Jawid M. Mitani, Tadahiro Du, Haowei Grochowski, Christopher M. Sousa, Sergio Bakhtiari, Somayeh Ito, Yoko A. Rocca, Clarissa Hunter, Jill V. Sutton, V. Reid Emrick, Lisa T. Boycott, Kym M. Lossos, Alexander Fellig, Yakov Prus, Eugenia Kalish, Yosef Meiner, Vardiella Suerink, Manon Ruivenkamp, Claudia Muirhead, Kayla Saadi, Nebal W. Zaki, Maha S. Skidmore, David L. Osmond, Matthew Silva, Thiago Oliveira Houlden, Henry Murphy, David Ghayoorarimiani, Ehsan Jamshidi, Yalda Jaddoa, Asaad Ghanim Tajsharghi, Homa Jin, Sheng Chih Coban-Akdemir, Zeynep Travaglini, Lorena Nicita, Francesco Jhangiani, Shalini N. Gibbs, Richard A. Posey, Jennifer E. Kruer, Michael C. Kernohan, Kristin D. Morales Saute, Jonas A. Vanderver, Adeline Pehlivan, Davut Marafi, Dana Lupski, James R. |
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| doi_str_mv | 10.1002/ana.26381 |
| format | Article |
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| ispartof | Annals of neurology, 2022-05, Vol.92 (2), p.304-321 |
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| source | Wiley Online Library Journals Frontfile Complete |
| title | Biallelic variants in the ectonucleotidase ENTPD1 cause a complex neurodevelopmental disorder with intellectual disability, hypomyelination, and spastic paraplegia |
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