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Article

Bi-allelic Pathogenic Variants in HS2ST1 Cause a Syndrome Characterized by Developmental Delay and Corpus Callosum, Skeletal, and Renal Abnormalities.

American journal of human genetics - 3 Dec 2020

Schneeberger Pauline E, von Elsner Leonie, Barker Emma L, Meinecke Peter, Marquardt Iris, Alawi Malik, Steindl Katharina, Joset Pascal, Rauch Anita, Zwijnenburg Petra J G, Weiss Marjan M, Merry Catherine L R, Kutsche Kerstin

Abstract excerpt

Heparan sulfate belongs to the group of glycosaminoglycans (GAGs), highly sulfated linear polysaccharides. Heparan sulfate 2-O-sulfotransferase 1 (HS2ST1) is one of several specialized enzymes required for heparan sulfate synthesis and catalyzes the transfer of the sulfate groups to the sugar moiety of heparan sulfate. We report bi-allelic pathogenic variants in HS2ST1 in four individuals from three unrelated...

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Identifiers

PMID: 33159882
DOI: 10.1016/j.ajhg.2020.10.007
PMCID: PMC7820632

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