[…] degeneración macular relacionada con la edad (ABCA4, CFH, CFB, CHM, EFEMP1, PLA2G5, RDH5, RLBP1, RS1, TIMP3, VPS13B) Pan251 Galactosemia (GALE, GALK1, GALM, GALT) Pan228 Glaucoma
[bredagenetics.com]
Homozygous mutation in CEP19, a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly Esra Yıldız Bölükbaşı et al.
[pubmed.ncbi.nlm.nih.gov]
The 4.57 Mb disease locus harboured homozygous, truncating CEP19 c.194_195insA (p.Tyr65*) mutation.
[pubmed.ncbi.nlm.nih.gov]