Haploinsufficiency of PRRT2 Leading to Familial Hemiplegic Migraine in Chromosome 16p11.2 Deletion Syndrome.
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DOI: 10.1055/a-1863-1798
Abstract: Microdeletion in the 16p11.2 loci lead to a distinct neurodevelopmental disorder with intellectual disability and autism spectrum disorder in addition to dysmorphia, macrocephaly and increased body mass index (BMI). One of the deleted genes in… read more here.
Keywords: haploinsufficiency prrt2; hemiplegic migraine; familial hemiplegic; migraine ... See more keywords