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including 37% for clinical exome sequencing and 15.8% for mitochondrial genome sequencing. We identified 71 individuals with PMD (mtDNAn = 41, nDNAn = 30) and 22 individuals with non-PMD. Adults had higher percentage of mtDNA-PMD compared to children...
Family 7 had a CT angiography of the brain at the age 27 years old, which showed multifocal narrowing of the distal intracranial arteries with likely secondary intravascular calcium deposition in the absence of cardiovascular risk factors (Fig.1b(VIIb)). No conclusive brain calcification imaging wa...
As a result, adults typically contract hematopoietic cancers (lymphomas and leukemias) in post-antigen-stimulated B and T-cells and the myeloid lineage predominates in adult tumors. Distinct from adult leukemias, the unique properties of childhood leukemia cells are likely to be important for ...
Primary aldosteronism (PA) is a heterogeneous group of disorders caused by the autonomous overproduction of aldosterone with simultaneous suppression of plasma renin activity (PRA). It is considered to be the most common endocrine cause of secondary arterial hypertension (HT) and is associated with a...