Novel truncating PPM1D mutation in a patient with intellectual disability.
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DOI: 10.1016/j.ejmg.2018.05.006
Abstract: Truncating mutations in the last and penultimate exons of the PPM1D gene were recently described as a cause for mild to severe intellectual disability in fourteen patients. Feeding difficulties, periods of fever and vomiting as… read more here.
Keywords: novel truncating; intellectual disability; truncating ppm1d; mutation ... See more keywords