Abstract Purpose of Review Turner syndrome (TS), neurofibromatosis type 1 (NF1), and
William Syndrome (WS) are 3 genetic conditions that are all associated with a substantial …

Subcutaneous fat necrosis (SCFN) is an uncommon cause of neonatal hypercalcaemia. It is
usually seen in neonates after a complicated delivery within the first month of life. While …

ABSTRACT Background: Williams-Beuren syndrome is a multisystemic disorder caused by
a microdeletion of the 7q11. 23 region. Although familial cases with autosomal dominant …

Williams syndrome is an autosomal-dominant multisystem disorder. Infantile hypercalcemia
has been documented in 15% of infants with Williams syndrome, and is commonly transient …

Results. It is shown that, depending on the cause of nephrocalcinosis, it may be a
manifestation of various states and hereditary syndromes, with pathogenetic mechanisms of …

Discussion Nephrocalcinosis (NC) is defined as calcium mineral precipitation in the renal
parenchyma either in the form of calcium oxalate or more commonly calcium phosphate [4] …

ABStrAct Background: Williams-Beuren syndrome is a multisystemic disorder caused by a
microdeletion of the 7q11. 23 region. Although familial cases with autosomal dominant …

To explore and analyze the effect of continuous renal replacement therapy combined with
comprehensive management on the improvement of electrolyte disorders in patients with …

Цель исследования представить по данным литературы заболевания и состояния, при
которых развивается нефрокальциноз, с учетом генетических аспектов данной …

Материал и методы. Клинические и молекулярно-генетические данные по каждому
заболеванию составлены с использованием электронной базы данных OMIM–on-line …