Article
A girl with developmental delay, ataxia, cranial nerve palsies, severe respiratory problems in infancy-Expanding NDST1 syndrome.
American journal of medical genetics. Part A - 1 Mar 2017
Armstrong Linlea, Tarailo-Graovac Maja, Sinclair Graham, Seath Kimberly I, Wasserman Wyeth W, Ross Colin J, van Karnebeek Clara D M
Abstract excerpt
NDST1 encodes an enzyme involved in the first steps in the synthesis of heparan sulfate chains, proteoglycans that are regulators found on the cell surface and in the extracellular matrix. Eight individuals homozygous for one of four family-specific missense mutations in the sulfotransferase domain of the enzyme have been described. They have intellectual disability. Some additionally had hypotonia, ataxia....
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