Multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus: A new syndrome

European Journal of Human Genetics

Volumn 20, Issue 6, 2012, Pages 618-625

  Babovic Vuksanovic, D ^a   Messiaen, Ludwine ^b   Nagel, Christoph ^c   Brems, Hilde ^d   Scheithauer, Bernd ^a   Denayer, Ellen ^d   Mao, Rong ^e   Sciot, Raf ^d   Janowski, Karen M ^b   Schuhmann, Martin U ^c   Claes, Kathleen ^f   Beert, Eline ^d   Garrity, James A ^a   Spinner, Robert J ^a   Stemmer Rachamimov, Anat ^g   Gavrilova, Ralitza ^a   Van Calenbergh, Frank ^d   Mautner, Victor ^h   Legius, Eric ^d  

^a Mayo Clinic College of Medicine   (United States)

^b UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^c UNIVERSITY OF TÜBINGEN   (Germany)

^d UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^e ARUP LABORATORIES   (United States)

^f GHENT UNIVERSITY   (Belgium)

^g HARVARD MEDICAL SCHOOL   (United States)

^h UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

Author keywords

enlarged corneal nerves; marfanoid habitus; Orbital neurofibroma; plexiform neurofibroma

Indexed keywords

DNA;

ADOLESCENT; ADULT; ARTICLE; CASE REPORT; CLINICAL FEATURE; CORNEA; EXOPHTHALMOS; FEMALE; GENE MUTATION; GLAUCOMA; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; LYMPHOCYTE; MALE; MARFAN SYNDROME; MARFANOID HABITUS; NERVE; NEUROFIBROMA; NUCLEAR MAGNETIC RESONANCE IMAGING; ORBIT TUMOR; PERIPHERAL NERVE TUMOR; PERIPHERAL NEUROPATHY; PHENOTYPE; PRIORITY JOURNAL; SCHWANN CELL; SYNDROME DELINEATION;

ADOLESCENT; FACE; FEMALE; HUMANS; MALE; MARFAN SYNDROME; MUTATION; NERVE SHEATH NEOPLASMS; NEUROFIBROMATOSES; PAIN; SCHWANN CELLS; YOUNG ADULT;

EID: 84861191977     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2011.275     Document Type: Article

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