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Article

Characterization of phenotypic range in DYRK1A haploinsufficiency syndrome using standardized behavioral measures.

American journal of medical genetics. Part A - 1 Jul 2022

Fenster Rebecca, Ziegler Alban, Kentros Catherine, Geltzeiler Alexa, Green Snyder LeeAnne, Brooks Elizabeth, Chung Wendy K

Abstract excerpt

DYRK1A haploinsufficiency syndrome is a well-established neurodevelopmental disorder, but detailed information on the range of cognitive and behavioral issues associated with the condition is limited. We studied 24 participants with likely pathogenic or pathogenic variants in DYRK1A through the Simons Searchlight study and systematically assessed their medical history and development using standardized...

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PMID: 35285131
DOI: 10.1002/ajmg.a.62721

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