Leandra Folk
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View article: Identification of de novo variants in KCTD10 as a proposed cause for multiple congenital anomalies
Identification of de novo variants in KCTD10 as a proposed cause for multiple congenital anomalies Open
To date, the KCTD10 gene (MIM: 608726) has not been definitively associated with a human disease, although studies in animal models suggest that it plays a role in embryonic development. We have identified multiple unrelated individuals wi…
View article: Delineating the genotypic and phenotypic spectrum of <i>HECW2</i>-related neurodevelopmental disorders
Delineating the genotypic and phenotypic spectrum of <i>HECW2</i>-related neurodevelopmental disorders Open
Background Variants in HECW2 have recently been reported to cause a neurodevelopmental disorder with hypotonia, seizures and impaired language; however, only six variants have been reported and the clinical characteristics have only broadl…