A novel PHIP variant in a family with severe early-onset obesity.
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DOI: 10.1159/000542205
Abstract: Abstract Introduction: Severe childhood obesity can be caused by pathogenic variants in several genes involved in monogenic and syndromic obesity. Recently, heterozygous variants in pleckstrin homology domain interacting protein (PHIP) have been identified in patients… read more here.
Keywords: phip variant; severe early; obesity; phip ... See more keywords