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Journal article
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance
Kaiser, Frank J.
Ansari, Morad
Braunholz, Diana
Gil-Rodríguez, María Concepción
Decroos, Christophe
Wilde, Jonathan J.
Fincher, Christopher T.
Kaur, Maninder
Bando, Masashige
Amor, David J.
Atwal, P.S.
Bahlo, Melanie
Bowman, Christine M.
Bradley, Jacquelyn J.
Brunner, Han G.
Clark, Dinah
Campo, Miguel Del
Di Donato, Nataliya
Diakumis, Peter
Dubbs, Holly
Dyment, David A.
Eckhold, Juliane
Ernst, Sarah
Ferreira, Jose C.
Francey, Lauren J.
Gehlken, Ulrike
Guillén-Navarro, Encarna
Gyftodimou, Yolanda
Hall, Bryan D.
Hennekam, Raoul
Hudgins, Louanne
Hullings, Melanie
Hunter, Jennifer M.
Yntema, Helger
Innes, A. Micheil
Kline, Antonie D.
Krumina, Zita
Lee, Hane
Leppig, Kathleen
Lynch, Sally Ann
Mallozzi, Mark B.
Mannini, Linda
Mckee, Shane
Mehta, Sarju G.
Micule, Ieva
Consortium, Care Rare Canada
Mohammed, Shehla
Moran, Ellen
Mortier, Geert R.
Moser, Joe-Ann S.
Noon, Sarah E.
Nozaki, Naohito
Nunes, Luis
Pappas, John G.
Penney, Lynette S.
Pérez-Aytés, Antonio
Petersen, Michael B.
Puisac, Beatriz
Revencu, Nicole
[UCL]
Roeder, Elizabeth
Saitta, Sulagna
Scheuerle, Angela E.
Schindeler, Karen L.
Siu, Victoria M.
Stark, Zornitza
Strom, Samuel P.
Thiese, Heidi
Vater, Inga
Willems, P.
Williamson, Kathleen
Wilson, Louise C.
Hakonarson, Hakon
Quintero-Rivera, Fabiola
Wierzba, Jolanta
Musio, Antonio
Gillessen-Kaesbach, Gabriele
Ramos, Feliciano J.
Jackson, Laird G.
Shirahige, Katsuhiko
Pié, Juan
Christianson, David W.
Krantz, Ian D.
Fitzpatrick, David R.
Deardorff, Matthew A.
(2014)
Human Molecular Genetics — Vol. 23, no. 11, p. 2888-2900 (2014)