Unusual Stüve-Wiedemann syndrome with complete maternal chromosome 5 isodisomy

Annals of Clinical and Translational Neurology

Volumn 1, Issue 11, 2014, Pages 926-932

  Melone, Mariarosa A B ^a   Pellegrino, Michael J ^b   Nolano, Maria ^c   Habecker, Beth A ^b   Johansson, Stefan ^d,e   Nathanson, Neil M ^f   Knappskog, Per M ^d,e   Hahn, Angelika F ^g   Boman, Helge ^d,e  

^a SECOND UNIVERSITY OF NAPLES   (Italy)

^b OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^c IRCCS   (Italy)

^d UNIVERSITY OF BERGEN   (Norway)

^e HAUKELAND UNIVERSITY HOSPITAL   (Norway)

^f UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^g UNIVERSITY OF WESTERN ONTARIO   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

CARDIOTROPHIN 1; COLLAGEN TYPE 4; CYTOKINE RECEPTOR; DOPAMINE BETA MONOOXYGENASE; INTERLEUKIN 6; LEUKEMIA INHIBITORY FACTOR; LEUKEMIA INHIBITORY FACTOR RECEPTOR; MYELIN BASIC PROTEIN; ONCOSTATIN M RECEPTOR; STAT3 PROTEIN; VASOACTIVE INTESTINAL POLYPEPTIDE;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BONE DYSPLASIA; CARDIOVASCULAR REFLEX; CASE REPORT; CHROMOSOME 5; CLINICAL ARTICLE; CONTROLLED STUDY; CYTOGENETICS; DNA DETERMINATION; DNA SEQUENCE; ELECTRODERMAL RESPONSE; ELECTROPHYSIOLOGY; FEMALE; GENE DISRUPTION; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; GENETIC TRANSFECTION; GLYCOSYLATION; HEAT INTOLERANCE; HOMOZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOFLUORESCENCE; IMMUNOHISTOCHEMISTRY; KARYOTYPING; NOCICEPTION; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SKIN BIOPSY; STUVE WIEDEMANN SYNDROME; SWEATING; UNIPARENTAL DISOMY; WESTERN BLOTTING; WHOLE EXOME SEQUENCING;

EID: 84969387615     PISSN: None     EISSN: 23289503     Source Type: Journal    
DOI: 10.1002/acn3.126     Document Type: Article

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