Article
Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder.
Brain : a journal of neurology - 3 Apr 2025
Aughey Gabriel N, Cali Elisa, Maroofian Reza, Zaki Maha S, Pagnamenta Alistair T, Ali Zafar, Abdulllah Uzma, Rahman Fatima, Menzies Lara, Shafique Anum, Suri Mohnish, Roze Emmanuel, Aguennouz Mohammed, Ghizlane Zouiri, Saadi Saadia Maryam, Fatima Ambrin, Cheema Huma Arshad, Anjum Muhammad Nadeem, Morel Godelieve, Robin Stephanie, McFarland Robert, Altunoglu Umut, Kraus Verena, Shoukier Moneef, Murphy David, Flemming Kristina, Yttervik Hilde, Rhouda Hajar, Lesca Gaetan, Chatron Nicolas, Rossi Massimiliano, Murtaza Bibi Nazia, Ur Rehman Mujaddad, Lord Jenny, Giacopuzzi Edoardo, Hayat Azam, Siraj Muhammad, Shervin Badv Reza, Seo Go Hun, Beetz Christian, Kayserili Hülya, Krioulie Yamna, Chung Wendy K, Naz Sadaf, Maqbool Shazia, Chandler Kate E, Kershaw Christopher J, Wright Thomas, Banka Siddharth, Gleeson Joseph G, Taylor Jenny C, Efthymiou Stephanie, Baig Shahid Mahmood, Severino Mariasavina, Jepson James E C, Houlden Henry
Abstract excerpt
Retinoblastoma (RB) proteins are highly conserved transcriptional regulators that play important roles during development by regulating cell-cycle gene expression. RBL2 dysfunction has been linked to a severe neurodevelopmental disorder. However, to date, clinical features have been described in only six individuals carrying five biallelic predicted loss-of-function (pLOF) variants. To define the phenotypic...
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