Expanding the clinical phenotype of COG6 deficiency

Journal of Medical Genetics

Volumn 51, Issue 6, 2014, Pages 425-

  Haijes, Hanneke ^a   Prinsen, Hubertus C M T ^b   Thiel, Christian ^c   Koerner, Christian ^c   Verhoeven Duif, Nanda M ^b   Van Hasselt, Peter ^a  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^b UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^c Universitaetsklinikum Heidelberg   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; COG6 PROTEIN; CYSTEINE; GLYCINE; MEMBRANE PROTEIN; UNCLASSIFIED DRUG; VALINE; VESICULAR TRANSPORT ADAPTOR PROTEIN;

AFRICAN AMERICAN; AMINO ACID SUBSTITUTION; ANHIDROSIS; ARTICLE; COG6 CONGENITAL DISORDERS OF GLYCOSYLATION; CONGENITAL DISORDER OF GLYCOSYLATION; ENZYME ACTIVITY; GENE MUTATION; GENETIC ANALYSIS; GENETIC DISORDER; HETEROZYGOTE; HUMAN; INCIDENCE; INTELLECTUAL IMPAIRMENT; LIVER DYSFUNCTION; MICROCEPHALY; PATHOGENICITY; PHENOTYPE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; DEFICIENCY; GENETICS; MALE;

ADAPTOR PROTEINS, VESICULAR TRANSPORT; HUMANS; HYPOHIDROSIS; INTELLECTUAL DISABILITY; MALE;

EID: 84901286373     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2014-102329     Document Type: Article

References (4)

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2. Huybrechts S, De Laet C, Bontems P, Rooze S, Souayah H, Sznajer Y, Sturiale L, Garozzo D, Matthijs G, Ferster A, Jaeken J, Goyens P. Deficiency of Subunit 6 of the Conserved Oligomeric Golgi Complex (COG6-CDG): Second Patient, Different Phenotype. JIMD Rep 2012;4:103-8.
3. Lübbehusen J, Thiel C, Rind N, Ungar D, Prinsen BH, de Koning TJ, van Hasselt PM, Körner C. Fatal outcome due to deficiency of subunit 6 of the conserved oligomeric Golgi complex leading to a new type of congenital disorders of glycosylation. Hum Mol Genet 2010;19:3623-33.
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