Condition: Melanocortin 4 Receptor Deficiency


rs1057516044 in ABCC9 gene and Melanocortin 4 Receptor Deficiency PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs139043155 in LDLR gene and Melanocortin 4 Receptor Deficiency PMID 1301956 1992 Molecular genetics of the LDL receptor gene in familial hypercholesterolemia.

PMID 1734910 1992 Racial differences in the frequencies of scleroderma-related autoantibodies.

rs1057516048 in NSD1 gene and Melanocortin 4 Receptor Deficiency PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs1553794304 in PIGX;CEP19 gene and Melanocortin 4 Receptor Deficiency PMID 29127258 2018 Homozygous mutation in CEP19, a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly.

rs1057515572 in PMS2 gene and Melanocortin 4 Receptor Deficiency PMID 17557300 2007 Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation.

rs312262717 in SPG11 gene and Melanocortin 4 Receptor Deficiency PMID 19194956 2009 SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration.