Biallelic mutations in P4HTM cause syndromic obesity.
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DOI: 10.2337/db22-1017
Abstract: We previously demonstrated that 50% of children with obesity from consanguineous families from Pakistan carried pathogenic variants in known monogenic obesity genes. Here, we have discovered a novel monogenetic recessive form of severe childhood obesity,… read more here.
Keywords: cause syndromic; mutations p4htm; p4htm cause; biallelic mutations ... See more keywords