Abstract:define a new subgroup of schizophrenia, often associated with obsessivecompulsive disorder. 1 Here, we described a proband with a de novo variant in SETD1A [NM_014712.3:exon8: c.2120_2121insA (p.Gly708Argfs*117)] identified by whole-exome sequencing. The main manifestations of the proband were moderate global developmental delay, epilepsy, hypotonia, short stature, special facial features, hemangioma, toe deformity, white matter dysplasia, and ventricular dilation. Several studies have shown that individuals … Show more
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