Article
De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrum.
Clinical genetics - 1 Nov 2016
Jansen S, Kleefstra T, Willemsen M H, de Vries P, Pfundt R, Hehir-Kwa J Y, Gilissen C, Veltman J A, de Vries B B A, Vissers L E L M
Abstract excerpt
De novo missense mutations and in-frame coding deletions in the X-linked gene SMC1A (structural maintenance of chromosomes 1A), encoding part of the cohesin complex, are known to cause Cornelia de Lange syndrome in both males and females. For a long time, loss-of-function (LoF) mutations in SMC1A were considered incompatible with life, as such mutations had not been reported in neither male nor female patients....
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