Biopsy confirms most basal cell carcinomas, but molecular testing can separate it from melanoma or squamous cell carcinoma and flag driver mutations that guide treatment.
Easy bruising and low counts of unusually large platelets follow a GP1BB change in the glycoprotein Ib-IX-V complex, with severity varying inside a single family.
GP9 mutations leave the GPIX protein missing or faulty, so platelets cannot make first contact with the vessel wall; lentiviral gene therapy is under investigation.
This FOXL2-linked disorder combines blepharophimosis, ptosis, epicanthus inversus and Duane retraction syndrome. Carrier and prenatal testing are also covered.
Several genes in this chromosome 18 region have been tied to differences in body mass index, and BMIQTL18 is examined through AutoQTL and BDNF rs6265 research.
Discover the Bombay Phenotype, a rare blood group with unique challenges in transfusion and transplantation. Learn about genetic testing, diagnosis, and managing this condition…
Bone marrow hypocellularity, when marrow makes too few blood cells, can stem from gene mutations, infections, drugs or radiation and cause fatigue and bruising.
Four studies underpin BMD QTL 17: an osteoclast eQTL dataset, 15 protein-coding genes at susceptibility loci, an RREB1 regulatory SNP and B-vitamin interactions.