Article

Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2025

Calame Daniel G, Wong Jovi Huixin, Panda Puravi, Nguyen Dat Tuan, Leong Nancy C P, Sangermano Riccardo, Patankar Sohil G, Abdel-Hamid Mohamed S, AlAbdi Lama, Safwat Sylvia, Flannery Kyle P, Dardas Zain, Fatih Jawid M, Murali Chaya, Kannan Varun, Lotze Timothy E, Herman Isabella, Ammouri Farah, Rezich Brianna, Efthymiou Stephanie, Alavi Shahryar, Murphy David, Firoozfar Zahra, Nasab Mahya Ebrahimi, Bahreini Amir, Ghasemi Majid, Haridy Nourelhoda A, Goldouzi Hamid Reza, Eghbal Fatemeh, Karimiani Ehsan Ghayoor, Begtrup Amber, Elloumi Houda, Srinivasan Varunvenkat M, Gowda Vykuntaraju K, Du Haowei, Jhangiani Shalini N, Coban-Akdemir Zeynep, Marafi Dana, Rodan Lance, Isikay Sedat, Rosenfeld Jill A, Ramanathan Subhadra, Staton Michael, Oberg Kerby C, Clark Robin D, Wenman Catharina, Loughlin Sam, Saad Ramy, Ashraf Tazeen, Male Alison, Tadros Shereen, Boostani Reza, Abdel-Salam Ghada M H, Zaki Maha, Mardi Ali, Hashemi-Gorji Farzad, Abdalla Ebtesam, Manzini M Chiara, Pehlivan Davut, Posey Jennifer E, Gibbs Richard A, Houlden Henry, Alkuraya Fowzan S, Bujakowska Kinga, Maroofian Reza, Lupski James R, Nguyen Long N