A case of White–Sutton syndrome arising from a maternally-inherited mutation in POGZ

We describe their clinical features and compare them with clinical data of patients with WHSUS from the literature. Our finding broadens the spectrum of POGZ mutations and provides a good example of precision medicine through the combination of exome sequencing and clinical testing.
Source: Psychiatric Genetics - Category: Genetics & Stem Cells Tags: Brief Reports Source Type: research