Title : Perturbed body fluid distribution and osmoregulation in response to high salt intake in patients with hereditary multiple exostoses.

Pub. Date : 2021 Dec

PMID : 34815940






1 Functional Relationships(s)
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1 Background: Hereditary Multiple Exostoses (HME) is a rare autosomal disorder characterized by the presence of multiple exostoses (osteochondromas) caused by a heterozygous loss of function mutation in EXT1 or EXT2; genes involved in heparan sulfate (HS) chain elongation. Heparitin Sulfate exostosin glycosyltransferase 1 Homo sapiens