Titre:
  • Recessive TMEM167A variants cause neonatal diabetes, microcephaly and epilepsy syndrome.
Auteur:Virgilio, Enrico; Tielens, Sylvia; Bonfield, Georgia; Nian, Fang-Shin; Sawatani, Toshiaki; Vinci, Chiara; Govier, Molly; Montaser, Hossam El-dien; Lartigue, Romane; Arunagiri, Anoop; Liboz, Alexandrine; Natividade da Silva, Flávia; Lytrivi, Maria; Papadopoulou, Theodora; Wakeling, Matthew Neil; Russ-Silsby, James; Bowman, Pamela; Johnson, Matthew B; Laver, Thomas W; Piron, Anthony; Yi, Xiaoyan; Fantuzzi, Federica; Hendrickx, Sirine; Igoillo Esteve, Mariana; Santacreu, Bruno Jaime; Suntharesan, Jananie; Ghildiyal, Radha; Hegde, Darshan DG; Shah, Nikhil Avnish; Acar, Sezer; Özkaya Dönmez, Beyhan; Özkan, Behzat; Mohsin, Fauzia; Talaat, Iman IM; Abbas, Mohamed Tarek; Abbas, Omar Saied; Alghamdi, Hamed Ali; Kandemir, Nurgun; Flanagan, Sarah E.; Scharfmann, Raphaël; Arvan, Peter; Raoux, Matthieu; Nguyen, Laurent; Hattersley, Andrew T; Cnop, Miriam; De Franco, Elisa
Informations sur la publication:The Journal of clinical investigation
Statut de publication:Publié, 2025-09-01
Sujet CREF:Sciences bio-médicales et agricoles
Mots-clés:Beta cells
Cell biology
Endocrinology
Genetic diseases
Genetics
Neurodevelopment
Langue:Anglais
Identificateurs:urn:issn:0021-9738
info:doi/10.1172/JCI195756
info:pii/195756
info:pmid/40924476