학술논문

PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literature
Document Type
Article
Author
Magyar, C.L.Chao, H.-T.Murdock, D.R.Burrage, L.C.Dai, H.Lalani, S.R.Lewis, R.A.Rosenfeld, J.A.Tran, A.A.Bacino, C.A.Lee, B.H.Lin, Y.Astudillo, M.F.Gibson, J.B.Acosta, M.T.Adam, M.Adams, D.R.Agrawal, P.B.Alvey, J.Amendola, L.Andrews, A.Ashley, E.A.Azamian, M.S.Bademci, G.Baker, E.Balasubramanyam, A.Baldridge, D.Bale, J.Bamshad, M.Barbouth, D.Bayrak-Toydemir, P.Beck, A.Beggs, A.H.Behrens, E.Bejerano, G.Bennet, J.Berg-Rood, B.Bernstein, J.A.Berry, G.T.Bican, A.Bivona, S.Blue, E.Bohnsack, J.Bonnenmann, C.Bonner, D.Botto, L.Boyd, B.Briere, L.C.Brokamp, E.Brown, G.Burke, E.A.Butte, M.J.Byers, P.Byrd, W.E.Carey, J.Carrasquillo, O.Peter Chang, T.C.Chanprasert, S.Clark, G.D.Coakley, T.R.Cobban, L.A.Cogan, J.D.Coggins, M.Cole, F.S.Colley, H.A.Cooper, C.M.Cope, H.Craigen, W.J.Crouse, A.B.Cunningham, M.D'Souza, P.Dasari, S.Davis, J.Dayal, J.G.Deardorff, M.Dell'Angelica, E.C.Dipple, K.Doherty, D.Dorrani, N.Doss, A.L.Douine, E.D.Draper, D.D.Duncan, L.Earl, D.Eckstein, D.J.Emrick, L.T.Eng, C.M.Esteves, C.Falk, M.Fernandez, L.Ferreira, C.Fieg, E.L.Findley, L.C.Fisher, P.G.Fogel, B.L.Forghani, I.Gahl, W.A.Glass, I.Gochuico, B.Godfrey, R.A.Golden-Grant, K.Goldrich, M.P.Goldstein, D.B.Grajewski, A.Groden, C.A.Gutierrez, I.Hahn, S.Hamid, R.Hassey, K.Hayes, N.High, F.Hing, A.Hisama, F.M.Holm, I.A.Hom, J.Horike-Pyne, M.Huang, A.Huang, Y.Huryn, L.Isasi, R.Jamal, F.Jarvik, G.P.Jarvik, J.Jayadev, S.Karaviti, L.Kennedy, J.Ketkar, S.Kiley, D.Kobren, S.N.Kohane, I.S.Kohler, J.N.Krakow, D.Krasnewich, D.M.Kravets, E.Korrick, S.Koziura, M.Krier, J.B.Lam, B.Lam, C.LaMoure, G.L.Lanpher, B.C.Lanza, I.R.Latham, L.LeBlanc, K.Lee, H.Levitt, R.Lincoln, S.A.Liu, P.Liu, X.Z.Longo, N.Loo, S.K.Loscalzo, J.Maas, R.L.MacDowall, J.Macnamara, E.F.MacRae, C.A.Maduro, V.V.Mak, B.C.Malicdan, M.C.V.Mamounas, L.A.Manolio, T.A.Kenneth Maravilla, R.M.Markello, T.C.Marom, R.Marth, G.Martin, B.A.Martin, M.G.Martínez-Agosto, J.A.Marwaha, S.McCauley, J.McConkie-Rosell, A.McCray, A.T.McGee, E.Mefford, H.Merritt, J.L.Might, M.Mirzaa, G.Morava, E.Moretti, P.M.Mosbrook-Davis, D.Mulvihill, J.J.Nakano-Okuno, M.Nath, A.Nelson, S.F.Newman, J.H.Nicholas, S.K.Nickerson, D.Nieves, S.RodriguezNovacic, D.Oglesbee, D.Orengo, J.P.Pace, L.Pak, S.Pallais, J.C.Palmer, C.G.S.Papp, J.C.Parker, N.H.Phillips, J.A.Posey, J.E.Potocki, L.Power, B.Pusey, B.N.Quinlan, A.Raskind, W.Raja, A.N.Rao, D.A.Renteria, G.Reuter, C.M.Rives, L.Robertson, A.K.Rodan, L.H.Rosenwasser, N.Rossignol, F.Ruzhnikov, M.Sacco, R.Sampson, J.B.Saporta, M.Scott, C.R.Schaechter, J.Schedl, T.Schoch, K.Scott, D.A.Shashi, V.Shin, J.Signer, R.Silverman, E.K.Sinsheimer, J.S.Sisco, K.Smith, E.C.Smith, K.S.Solem, E.Solnica-Krezel, L.Solomon, B.Spillmann, R.C.Stoler, J.M.Sullivan, J.A.Sullivan, K.Sun, A.Sutton, S.Sweetser, D.A.Sybert, V.Tabor, H.K.Tan, A.L.M.Tan, Q.K.-G.Tekin, M.Telischi, F.Thorson, W.Thurm, A.Tifft, C.J.Toro, C.Tucker, B.M.Urv, T.K.Vanderver, A.Velinder, M.Viskochil, D.Vogel, T.P.Wahl, C.E.Wallace, S.Walley, N.M.Walsh, C.A.Walker, M.Wambach, J.Wan, J.Wang, L.-K.Wangler, M.F.Ward, P.A.Wegner, D.Weisz-Hubshman, M.Wener, M.Wenger, T.Perry, K.W.Westerfield, M.Wheeler, M.T.Whitlock, J.Wolfe, L.A.Woods, J.D.Worley, K.Yamamoto, S.Yang, J.Yousef, M.Zastrow, D.B.Zein, W.Zhao, C.Zuchner, S.Bellen, H.Mahoney, R.
Source
In: American Journal of Medical Genetics, Part A. (American Journal of Medical Genetics, Part A, June 2022, 188(6):1868-1874)
Subject
Language
English
ISSN
15524833
15524825