Characteristic dysmorphic features in congenital disorders of glycosylation type IIb

Journal of Human Genetics

Volumn 63, Issue 3, 2018, Pages 383-386

  Kim, Yoon Myung ^a   Seo, Go Hun ^a   Jung, Euiseok ^a   Jang, Ja Hyun ^b,c   Kim, Sook Za ^d   Lee, Beom Hee ^a  

^a University of Ulsan College of Medicine   (South Korea)

^b Green Cross Corporation   (South Korea)

^c Green Cross Corporation   (South Korea)

^d Korea Genetics Research Center   (South Korea)

Author keywords

[No Author keywords available]

Indexed keywords

AMINOPHYLLINE; GLUCOSIDASE; MANNOSE OLIGOSACCHARIDE; MITOCHONDRIAL DNA; OXYGEN; TRANSFERRIN; TRISIALOTRANSFERRIN; UNCLASSIFIED DRUG; ALPHA GLUCOSIDASE; BIOLOGICAL MARKER; GLUCOSIDASE I;

APNEA; ARTICLE; BODY DYSMORPHIC DISORDER; CARDIOMEGALY; CHOLESTASIS; CLENCHED OVERLAPPED FINGER; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL DISORDER OF GLYCOSYLATION; EYELASH; FETUS ECHOGRAPHY; FINGER MALFORMATION; GENERALIZED EDEMA; HEPATOMEGALY; HEPATOSPLENOMEGALY; HIRSUTISM; HUMAN; HYDRAMNIOS; HYDROCELE; HYPOVENTILATION; IMMUNE DEFICIENCY; ISOELECTRIC FOCUSING; KARYOTYPE; MULTIPLE ORGAN FAILURE; MUSCLE HYPOTONIA; RETROGNATHIA; THROMBOCYTOPENIA; ALLELE; AMINO ACID SUBSTITUTION; CASE REPORT; GENETIC ASSOCIATION STUDY; GENETICS; GENOTYPE; INFANT; MALE; METABOLISM; MUTATION; PHENOTYPE; WHOLE EXOME SEQUENCING;

ALLELES; ALPHA-GLUCOSIDASES; AMINO ACID SUBSTITUTION; BIOMARKERS; CONGENITAL DISORDERS OF GLYCOSYLATION; DNA, MITOCHONDRIAL; GENETIC ASSOCIATION STUDIES; GENOTYPE; HUMANS; INFANT; KARYOTYPE; MALE; MUTATION; PHENOTYPE; WHOLE EXOME SEQUENCING;

EID: 85038007434     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/s10038-017-0386-7     Document Type: Article

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