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Article

Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2 -Related Neurodevelopmental Disorder

30 Jan 2021

Abstract excerpt

OBJECTIVE: -related neurodevelopmental disorder in 33 individuals. METHODS: using American College of Medical Genetics and Genomics/Association of Molecular Pathology criteria, largely identified via clinical exome sequencing. Genetic reports were reviewed. Clinical data were collected by retrospective chart review and caregiver report including standardized parent report measures. RESULTS: -related disorders to...

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PMID: 33728377
DOI: 10.1212/nxg.0000000000000551

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