In:
American Journal of Medical Genetics Part A, Wiley, Vol. 182, No. 6 ( 2020-06), p. 1460-1465
Kurzfassung:
Congenital disorders of glycosylation (CDG) are metabolic disorders that affect the glycosylation of proteins and lipids. Since glycosylation affects all organs, CDG show a wide spectrum of phenotypes. We present a patient with microcephaly, dysmorphic facies, congenital heart defect, focal epilepsy, infantile spasms, skeletal dysplasia, and a type 1 serum transferrin isoelectrofocusing due to a novel CDG caused by a homozygous variant in the oligosaccharyltransferase complex noncatalytic subunit ( OSTC ) gene involved in glycosylation and confirmed by serum transferrin electrophoresis.
Materialart:
Online-Ressource
ISSN:
1552-4825
,
1552-4833
DOI:
10.1002/ajmg.a.v182.6
DOI:
10.1002/ajmg.a.61553
Sprache:
Englisch
Verlag:
Wiley
Publikationsdatum:
2020
ZDB Id:
1493479-6
SSG:
12