A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.
Acquired melanocytic naevus phenotypes and MC1R genotypes in Han Chinese: a cross-sectional study.
Peerj
Li, Xiaohong X; Lee, Katie J KJ; Duffy, David L DL; Xu, Dandan D; Basude, Madhur Eshwar Rao MER; Hu, Ying Y; Zhang, Hang H; Jagirdar, Kasturee K; Soyer, H Peter HP; Dong, Huiting H; Sturm, Richard A RA
Genetic factors associated with naevus count and dermoscopic patterns: preliminary results from the Study of Nevi in Children (SONIC).
The British Journal Of Dermatology
Orlow, I I; Satagopan, J M JM; Berwick, M M; Enriquez, H L HL; White, K A M KA; Cheung, K K; Dusza, S W SW; Oliveria, S A SA; Marchetti, M A MA; Scope, A A; Marghoob, A A AA; Halpern, A C AC
Publication Date: 2015-04
Variant appearance in text: MC1R: R67Q; rs34090186
Nucleotide diversity and population differentiation of the melanocortin 1 receptor gene, MC1R.
Bmc Genetics
Savage, Sharon A SA; Gerstenblith, Meg R MR; Goldstein, Alisa M AM; Mirabello, Lisa L; Fargnoli, Maria Concetta MC; Peris, Ketty K; Landi, Maria Teresa MT