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Browsing by Author "Ng, Rowena"

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Individuals with Wiedemann-Steiner syndrome show nonverbal reasoning and visuospatial defects with relative verbal skill sparing

Ng, Rowena; Harris, Jacqueline R.; Fahrner, Jill A.; Björnsson, Hans Tómas (2023-06)

OBJECTIVES: Wiedemann-Steiner syndrome (WSS) is a rare Mendelian disorder of the epigenetic machinery caused by heterozygous pathogenic variants in KMT2A. Currently, the specific neurocognitive profile of this syndrome remains unknown. This case series ...
Sleep disturbances correlate with behavioral problems among individuals with Wiedemann-Steiner syndrome

Ng, Rowena; Björnsson, Hans Tómas; Fahrner, Jill A.; Harris, Jacqueline R. (2022-10-13)

Wiedemann-Steiner syndrome (WSS) is a rare genetic disorder caused by mutation in KMT2A and characterized by neurodevelopmental delay. This study is the first prospective investigation to examine the sleep and behavioral phenotypes among those with WSS ...

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