The various abnormalities include facial dysmorphia (arched eyebrows, synophrys, depressed nasal bridge, long philtrum, down-turned angles of the mouth), upper-extremity malformations, hirsutism, cardiac defects, and gastrointestinal alterations.
Systemic lupus erythematosus (SLE) is a heterogeneous autoimmune disease with a breakdown of self-tolerance that leads to various immune abnormalities, including the production of autoantibodies to double-stranded DNA and other nuclear antigens, deposition of immune complexes in various organs, and B cell disturbances suggesting a key role for B cells in the pathogenesis of this disease [ 1, 2].
Humans with DS also suffer from various hematological abnormalities, including thrombocytopenia, neutrophilia, and macrocytosis.
VA can be used to detect various breast abnormalities, including calcifications and benign and malignant masses, with relatively high specificity.
Patients with end-stage liver disease may have various pulmonary abnormalities, including restrictive and obstructive lung disease.
Patients with chronic renal failure may exhibit various cutaneous abnormalities including pruritus, xerosis cutis, alterations in cutaneous pigmentation, actinic elastosis and Raynaud's syndrome [ 12].
Staining was not apparent in nine normal brains and in 15 pathologic brains showing various cerebrovascular abnormalities, including Alzheimer's, Leigh's and Wernicke's diseases.
DOI: http://dx.doi.org/10.7554/eLife.01305.001 CHARGE syndrome is a rare genetic condition that causes various developmental abnormalities, including heart defects, deafness and neurological defects.
VDR null mice grow normally until weaning and thereafter develop various metabolic abnormalities including hypocalcemia, hypophosphatemia, secondary hyperparathyroidism, and bone deformity [ 46, 119].
Overall, our mutational annotations suggest that the pathological consequences of dysfunctional DRS could stem from various molecular abnormalities including defective dimerization, incompetent tRNA binding and structural instability.
