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CDG IIx with unusual phenotype
Author(s) -
Cheillan D.,
Cognat S.,
Dorche C.,
Jaeken J.,
VianeySaban C.,
Guffon N.
Publication year - 2004
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/b:boli.0000016679.20481.4a
Subject(s) - glycosylation , phenotype , golgi apparatus , biology , glycan , human genetics , genetics , medicine , endocrinology , glycoprotein , gene , endoplasmic reticulum
Summary: Congenital disorders of glycosylation (CDG) are a group of genetic diseases characterized by defective protein glycosylation. N ‐glycosylation defects are divided into two groups (I and II). CDG group II (types IIa to IIe) refers to defects in the Golgi processing of protein‐bound glycans. We report a patient with CDG IIx and an unusual phenotype.