PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia.
Masson A, Paccaud J, Orefice M, Colin E, Mäkitie O, Cormier-Daire V, Relator R, Ghosh S, Strub JM, Schaeffer-Reiss C, Marcelis C, Koolen DA, Pfundt R, de Boer E, Vissers LE, Gardeitchik T, Aarts LA, Rinne T, Terhal PA, Verbeek NE, Zuurbier LC, Plomp AS, Wessels MW, de Man SA, Bouman A, Bird LM, Saadeh-Haddad R, Guillen Sacoto MJ, Person R, Gooch C, Hurst AC, Thompson ML, Hiatt SM, Littlejohn RO, Roeder ER, Mori M, Hickey S, Hunter JM, Lee K, Osman K, Halloun R, Bachmann-Gagescu R, Rauch A, Wieczorek D, Platzer K, Luppe J, Duplomb-Jego L, El It F, Duffourd Y, Tran Mau-Them F, Huber C, Gordon CT, Taylan F, Mäkitie RE, Costantini A, Valta H, Robertson S, Poke G, Francoise M, Ciolfi A, Tartaglia M, Ekhilevitch N, Zaid R, Levy MA, Kerkhof J, McConkey H, Delanne J, Chevarin M, Vautrot V, Bourgeois V, Nguyen S, Marle N, Callier P, Safraou H, Morgan A, Amor DJ, Hildebrand M, Coman D, Aubert Mucca M, Thevenon J, Laffargue F, Bilan F, Pebrel-Richard C, Yoon G, Axford MM, Pérez-Jurado LA, Sevilla-Porras M, Black D, Philippe C, Sadikovic B, Thauvin-Robinet C, Olivier-Faivre L, Ori M, Thomas Q, Vitobello A.
Masson A, et al. Among authors: orefice m.
J Clin Invest. 2025 Sep 18:e182100. doi: 10.1172/JCI182100. Online ahead of print.
J Clin Invest. 2025.
PMID: 40965981
Free article.
