Ontology highlight
ABSTRACT:
SUBMITTER: Yu-Wai-Man C
PROVIDER: S-EPMC6189180 | biostudies-literature | 2018 Nov
REPOSITORIES: biostudies-literature
Yu-Wai-Man Cynthia C Arno Gavin G Brookes John J Garcia-Feijoo Julian J Khaw Peng Tee PT Moosajee Mariya M
European journal of human genetics : EJHG 20180808 11
1. NAME OF THE DISEASE (SYNONYMS): Primary congenital glaucoma (PCG). Glaucoma, congenital (GLC). 2. OMIM# OF THE DISEASE: 231300- GLC3A. 600975- GLC3B. 613085- GLC3C. 613086- GLC3D. 617272- GLC3E. 3. NAME OF THE ANALYSED GENES OR DNA/CHROMOSOME SEGMENTS: CYP1B1. LTBP2. MYOC. FOXC1. TEK. 4. OMIM# OF THE GENE(S): CYP1B1 MIM# 601771. LTBP2 MIM# 602091. MYOC MIM# 601652. FOXC1 MIM# 601090. TEK MIM# 600221. Review of the analytical and clinical validity, as well as of the clinical utility of DNA-bas ...[more]