Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities
PRMT7双等位基因致病变异与一种可识别的综合征性神经发育障碍相关，其特征为身材矮小、肥胖以及颅面和手指异常。
期刊:Genetics in Medicine
影响因子:6.2
doi:10.1016/j.gim.2022.09.016
Cali, Elisa; Suri, Mohnish; Scala, Marcello; Ferla, Matteo P; Alavi, Shahryar; Faqeih, Eissa Ali; Bijlsma, Emilia K; Wigby, Kristen M; Baralle, Diana; Mehrjardi, Mohammad Y V; Schwab, Jennifer; Platzer, Konrad; Steindl, Katharina; Hashem, Mais; Jones, Marilyn; Niyazov, Dmitriy M; Jacober, Jennifer; Littlejohn, Rebecca Okashah; Weis, Denisa; Zadeh, Neda; Rodan, Lance; Goldenberg, Alice; Lecoquierre, François; Dutra-Clarke, Marina; Horvath, Gabriella; Young, Dana; Orenstein, Naama; Bawazeer, Shahad; Vulto-van Silfhout, Anneke T; Herenger, Yvan; Dehghani, Mohammadreza; Seyedhassani, Seyed Mohammad; Bahreini, Amir; Nasab, Mahya E; Ercan-Sencicek, A Gulhan; Firoozfar, Zahra; Movahedinia, Mojtaba; Efthymiou, Stephanie; Striano, Pasquale; Karimiani, Ehsan Ghayoor; Salpietro, Vincenzo; Taylor, Jenny C; Redman, Melody; Stegmann, Alexander P A; Laner, Andreas; Abdel-Salam, Ghada; Li, Megan; Bengala, Mario; Müller, Amelie Johanna; Digilio, Maria C; Rauch, Anita; Gunel, Murat; Titheradge, Hannah; Schweitzer, Daniela N; Kraus, Alison; Valenzuela, Irene; McLean, Scott D; Phornphutkul, Chanika; Salih, Mustafa; Begtrup, Amber; Schnur, Rhonda E; Torti, Erin; Haack, Tobias B; Prada, Carlos E; Alkuraya, Fowzan S; Houlden, Henry; Maroofian, Reza
