Skeletal dysplasia with brachytelephalangy in a patient with a congenital disorder of glycosylation due to ALG6 gene mutations

Clinical Genetics

Volumn 77, Issue 5, 2010, Pages 507-509

  Drijvers, J M ^a   Lefeber, D J ^a   de Munnik, S A ^a   Pfundt, R ^a   van de Leeuw, N ^a   Marcelis, C ^a   Thiel, C ^b   Koerner, C ^b   Wevers, R A ^a   Morava, E ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE AMINOTRANSFERASE; ASPARTATE AMINOTRANSFERASE; CREATINE KINASE; LACTATE DEHYDROGENASE; MEMBRANE PROTEIN; PROTEIN ALG6; UNCLASSIFIED DRUG;

ALANINE AMINOTRANSFERASE BLOOD LEVEL; ALBUMIN BLOOD LEVEL; ASPARTATE AMINOTRANSFERASE BLOOD LEVEL; BONE DISEASE; BONE DYSPLASIA; BRACHYTELEPHALANGY; CASE REPORT; CHROMOSOME ABERRATION; COMORBIDITY; CONGENITAL DISORDER OF GLYCOSYLATION; CREATINE KINASE BLOOD LEVEL; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; LACTATE DEHYDROGENASE BLOOD LEVEL; LETTER; MALE; NEWBORN; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; THROMBOCYTOPENIA;

BONE DISEASES, DEVELOPMENTAL; FEMALE; GLUCOSYLTRANSFERASES; GLYCOSYLATION; HUMANS; INFANT; INFANT, NEWBORN; LIMB DEFORMITIES, CONGENITAL; MALE; MEMBRANE PROTEINS; MUTATION; PREGNANCY;

EID: 77953079541     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2009.01349.x     Document Type: Letter

References (10)

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