학술논문
Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability
Document Type
Article
Author
Zhang, C.; Jolly, A.; Shayota, B.J.; Du, H.; Dawood, M.; Coban-Akdemir, Z.; White, J.; Potocki, L.; Rosenfeld, J.A.; Gibbs, R.A.; Posey, J.E.; Liu, P.; Lupski, J.R.; Sutton, V.R.; Carvalho, C.M.B.; Mazzeu, J.F.; Ramalho de Lima, A.; Ferreira, B.M.; Jhangiani, S.N.; Muzny, D.M.; Soper, P.C.; Mora, S.; Mason, K.; Shears, D.; Wainwright, A.; Thomson, F.R.; Douglas, S.L.; Wordsworth, P.; Oldridge, M.; Lester, T.; Calder, A.D.; Dumic, K.; Banka, S.; Donnai, D.; Chung, W.K.; Northrup, H.; Ashfaq, M.; Pollack, L.C.; McConkie-Rosell, A.; Kelly, W.; McDonald, M.; Hauser, N.S.; Leahy, P.; Powell, C.M.; Boy, R.; Honjo, R.S.; Kok, F.; Martelli, L.R.; Filho, V.O.; Genomics England Research Consortium; Bailey, K.
Source
In: Human Genetics and Genomics Advances . (Human Genetics and Genomics Advances, 13 January 2022, 3(1))
Subject
Language
English
ISSN
26662477