Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation

European Journal of Human Genetics

Volumn 16, Issue 1, 2008, Pages 28-35

  Morava, E ^a   Lefeber, D J ^a   Urban, Z ^b   de Meirleir, L ^c   Meinecke, P ^d   Gillessen Kaesbach, G ^e   Sykut Cegielska, J ^f   Adamowicz, M ^f   Salafsky, I ^g,j   Ranells, J ^h   Lemyre, E ⁱ   van Reeuwijk, J ^a   Brunner, H G ^a   Wevers, R A ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b WASHINGTON UNIVERSITY   (United States)

^c FREE UNIVERSITY OF BRUSSELS   (Belgium)

^d Altonaer Kinderkrankenhaus   (Germany)

^e UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

^f CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^g SHRINERS HOSPITALS FOR CHILDREN   (United States)

^h UNIVERSITY OF SOUTH FLORIDA   (United States)

ⁱ UNIVERSITY OF MONTREAL   (Canada)

^j NORTHWESTERN UNIVERSITY   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ANTICONVULSIVE AGENT; APOLIPOPROTEIN C3; TRANSFERRIN;

ABSENCE; ADOLESCENT; AORTA COARCTATION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BRACHYCEPHALY; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2X; CUTIS LAXA; FACE MALFORMATION; FAILURE TO THRIVE; FALSE NEGATIVE RESULT; FEMALE; FLATFOOT; FUNNEL CHEST; HIP DISLOCATION; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; INFANT; ISOELECTRIC FOCUSING; JOINT LAXITY; MALE; MICROCEPHALY; MUSCLE HYPOTONIA; NUTRITIONAL INTOLERANCE; PHENOTYPE; PRIORITY JOURNAL; SKIN BIOPSY; STRABISMUS;

ABNORMALITIES, MULTIPLE; CHILD; CHILD, PRESCHOOL; CUTIS LAXA; FEMALE; GENES, RECESSIVE; GLYCOSYLATION; HUMANS; INFANT; MALE; METABOLISM, INBORN ERRORS; PEDIGREE; PHENOTYPE; SYNDROME;

EID: 37249035574     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201947     Document Type: Article

References (22)

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