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.