학술논문
De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features
Document Type
Article
Author
Pan, X.; Lu, S.; Ma, M.; Hannan, S.B.; Kanca, O.; Glinton, K.E.; Wangler, M.F.; Yamamoto, S.; Bellen, H.J.; Tao, A.M.; Slaugh, R.; Granadillo, J.L.; Drewes Williams, S.; Ghaloul-Gonzalez, L.; O'Grady, L.; Sweetser, D.A.; Person, R.; Carter, M.T.; Platzer, K.; Schnabel, F.; Abou Jamra, R.; Roberts, A.E.; Newburger, J.W.; Revah-Politi, A.; Stegmann, A.P.A.; Sinnema, M.; Accogli, A.; Salpietro, V.; Capra, V.; Brueckner, M.; Simon, M.E.H.; Kirk, S.E.; Chung, W.K.; Burrage, L.C.; Heaney, J.D.; Kim, S.-Y.; Lanza, D.G.; Liu, Z.; Mao, D.; Milosavljevic, A.; Nagamani, S.C.S.; Posey, J.E.; Ramamurthy, U.; Ramanathan, V.; Rogers, J.; Rosenfeld, J.A.; Roth, M.; Zahedi Darshoori, R.
Source
In: American Journal of Human Genetics . (American Journal of Human Genetics, 4 April 2024, 111(4):742-760)
Subject
Language
English
ISSN
15376605
00029297
00029297