Expansion of the Genotypic and Phenotypic Spectrum of IASH1L/I-Related Syndromic Neurodevelopmental...
Expansion of the Genotypic and Phenotypic Spectrum of IASH1L/I-Related Syndromic Neurodevelopmental Disorder
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Publisher
MDPI AG
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Language
English
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Publisher
MDPI AG
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Contents
Pathogenic ASH1L variants have been reported in probands with broad phenotypic presentations, including intellectual disability, autism spectrum disorder, attention deficit hyperactivity disorder, seizures, congenital anomalies, and other skeletal, muscular, and sleep differences. Here, we review previously published individuals with pathogenic ASH...
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Full title
Expansion of the Genotypic and Phenotypic Spectrum of IASH1L/I-Related Syndromic Neurodevelopmental Disorder
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TN_cdi_gale_infotracmisc_A793549266
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_gale_infotracmisc_A793549266
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ISSN
2073-4425
E-ISSN
2073-4425
DOI
10.3390/genes15040423
