Condition: obsolete Rod-cone dystrophy


rs1555817157 in ABHD12 gene and obsolete Rod-cone dystrophy PMID 29571850 2018 Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene.

rs1553403917 in ALMS1 gene and obsolete Rod-cone dystrophy PMID 29079548 2018 A Next Generation Sequencing custom gene panel as first line diagnostic tool for atypical cases of syndromic obesity: Application in a case of Alström syndrome.

rs1553794304 in PIGX;CEP19 gene and obsolete Rod-cone dystrophy PMID 29127258 2018 Homozygous mutation in CEP19, a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly.

rs1555447569 in SCAPER gene and obsolete Rod-cone dystrophy PMID 28794130 2017 Mutations in SCAPER cause autosomal recessive retinitis pigmentosa with intellectual disability.