D e novo loss-of-function...

Clinical Genetics 2016 / 01

D e novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy resistant epilepsy in females: expanding the phenotypic spectrum

Jansen, Sandra, Kleefstra, Tjitske, Willemsen, Marjolein H., de Vries, Petra, Pfundt, Rolph, Hehir-Kwa, Jayne Y., Gilissen, Christian, Veltman, Joris A., de Vries, Bert B. A., Vissers, Lisenka E.L.M.
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Language:
english
Journal:
Clinical Genetics
DOI:
10.1111/cge.12729
Date:
January, 2016
File:
PDF, 578 KB
english, 2016
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