Biallelic Variants in the Ectonucleotidase <scp><i>ENTPD1</i></scp> Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia

Daniel G. Calame, Simon C. Robson(Beth Israel Deaconess Medical Center), Asaad Ghanim Jaddoa(Baghdad Medical City), Eugenia Prus(Hadassah Medical Center), Alexander Lossos(Hebrew University of Jerusalem), Yakov Fellig(Hadassah Medical Center), Charul Gijavanekar(Baylor College of Medicine), Maha S. Zaki(National Research Centre), Amir Bahreini(University of Pittsburgh), Kayla Muirhead(Children's Hospital of Philadelphia), Giovanni Zifarelli(Centogene (Germany)), Elahe Zarean(Isfahan University of Medical Sciences), Nebal Waill Saadi(Baghdad Medical City), Mohammad Reza Abbaszadegan(Mashhad University of Medical Sciences), Reza Ebrahimzadeh‐Vesal(Mashhad University of Medical Sciences), Sheng Chih Jin(Yale University), Susan Hosseini(Mashhad University of Medical Sciences), Jawid M. Fatih(Baylor College of Medicine), Clarissa Rocca(Institute of Human Genetics), David Murphy(National Hospital for Neurology and Neurosurgery), Yosef Kalish(Hadassah Medical Center), Tahsin Stefan Barakat(Erasmus MC), Isabella Herman(Texas Children's Hospital), Homa Tajsharghi(University of Skövde), V. Reid Sutton(Baylor College of Medicine), Manon Suerink(Leiden University Medical Center), Yoko Itō(University of Tsukuba), Yalda Jamshidi(St George's, University of London), Kym M. Boycott(University of Ottawa), Aren E. Marshall(University of Ottawa), Ehsan Ghayoor Karimiani(St George's, University of London), Nouriya Al‐Sannaa(Saudi Aramco Medical Services Organization), Thiago Oliveira Silva(Universidade Federal do Rio Grande do Sul), Karina Carvalho Donis(Universidade Federal do Rio Grande do Sul), Claudia Ruivenkamp(The Netherlands Cancer Institute), Reza Maroofian(National Hospital for Neurology and Neurosurgery), Shahryar Alavi(National Hospital for Neurology and Neurosurgery), Haowei Du(Baylor College of Medicine), Matthew Osmond(University of Ottawa), Lisa Emrick(Baylor College of Medicine), Jill V. Hunter(Baylor College of Medicine), Peter Bauer(Centogene (Germany)), Vardiella Meiner(Hadassah Medical Center), Tadahiro Mitani(Baylor College of Medicine), David Skidmore(Dalhousie University), Mohammad Mehdi Salehi(Iran University of Science and Technology), Sérgio B. Sousa, Arjan Bouman(Erasmus MC), Somayeh Bakhtiari(Barrow Neurological Institute), Christopher M. Grochowski(Baylor College of Medicine)
Annals of Neurology
April 26, 2022
Cited by 9


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