Loss-of-function HDAC8 mutations cause a phenotypic...

Human Molecular Genetics 2014 / 06 Vol. 23; Iss. 11

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, F. J., Ansari, M., Braunholz, D., Concepcion Gil-Rodriguez, M., Decroos, C., Wilde, J. J., Fincher, C. T., Kaur, M., Bando, M., Amor, D. J., Atwal, P. S., Bahlo, M., Bowman, C. M., Bradley, J.
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Volume:
23
Language:
english
Journal:
Human Molecular Genetics
DOI:
10.1093/hmg/ddu002
Date:
June, 2014
File:
PDF, 1.06 MB
english, 2014
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