Mosaicism of the UDP-Galactose transporter SLC35A2 in a female causing a congenital disorder of glycosylation: a case report

Mosaicism of the UDP-Galactose transporter SLC35A2 in a female causing a congenital disorder of glycosylation: a case report

Abstract Background Congenital disorders of glycosylation are rare conditions caused by genetic defects in glycan synthesis, processing or transport. Most congenital disorders of glycosylation involve defects in the formation or transfer of the lipid-linked oligosaccharide precursor of N-linked glyc...

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Bibliographic Details
Main Authors: Kristen Westenfield, Kyriakie Sarafoglou, Laura C. Speltz, Elizabeth I. Pierpont, Joan Steyermark, David Nascene, Matthew Bower, Mary Ella Pierpont
Format: Article
Language:English
Published: BMC 2018-06-01
Series:BMC Medical Genetics
Subjects:
Congenital disorder of glycosylation
Growth failure
Transferrin isoforms
SLC35A2 mutation
Whole exome sequencing
Online Access:http://link.springer.com/article/10.1186/s12881-018-0617-6

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http://link.springer.com/article/10.1186/s12881-018-0617-6

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