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Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities
- All authors
- Cali, E.; Suri, M.; Scala, M.; Ferla, M.P.; Alavi, S.; Faqeih, E.A.; Bijlsma, E.K.; Wigby, K.M.; Baralle, D.; Mehrjardi, M.Y.V.; Schwab, J.; Platzer, K.; Steindl, K.; Hashem, M.; Jones, M.; Niyazov, D.M.; Jacober, J.; Littlejohn, R.O.; Weis, D.; Zadeh, N.; Rodan, L.; Goldenberg, A.; Lecoquierre, F.; Dutra-Clarke, M.; Horvath, G.; Young, D.; Orenstein, N.; Bawazeer, S.; Vulto-van Silfhout, A.T.; Herenger, Y.; Dehghani, M.; Seyedhassani, S.M.; Bahreini, A.; Nasab, M.E.; Ercan-Sencicek, A.G.; Firoozfar, Z.; Movahedinia, M.; Efthymiou, S.; Striano, P.; Karimiani, E.G.; Salpietro, V.; Taylor, J.C.; Redman, M.; Stegmann, A.P.A.; Laner, A.; Abdel-Salam, G.; Li, M.G.; Bengala, M.; Müller, A.J.; Digilio, M.C.; Rauch, A.; Gunel, M.; Titheradge, H.; Schweitzer, D.N.; Kraus, A.; Valenzuela, I.; McLean, S.D.; Phornphutkul, C.; Salih, M.; Begtrup, A.; Schnur, R.E.; Torti, E.; Haack, T.B.; Prada, C.E.; Alkuraya, F.S.; Houlden, H.; Maroofian, R.
- Date
- 2023-01-04
- Journal
- Genetics in Medicine
- Volume
- 25
- Issue
- 1
- Pages
- 135 - 142