Rheumatologic and neurological events in an elderly patient with tricho-rhino-phalangeal syndrome type I

European Journal of Medical Genetics

Volumn 54, Issue 4, 2011, Pages

  Rué, Marjory ^a   Lüdecke, Hermann Josef ^b   Sibon, Igor ^c   Richez, Christophe ^d   Taine, Laurence ^e   Foubert Samier, Alexandra ^a   Arveiler, Benoit ^e   Schaeverbeke, Thierry ^d   Lacombe, Didier ^e   Tison, François ^a   Goizet, Cyril ^c,e  

^a Groupe Hospitalier Sud CHU de Bordeaux   (France)

^b UNIVERSITY HOSPITAL ESSEN   (Germany)

^c HÔPITAL PELLEGRIN   (France)

^d BORDEAUX UNIVERSITY HOSPITAL   (France)

^e Laboratoire Maladies Rares Génétique et Métabolisme Bordeaux University   (France)

Author keywords

Adult phenotype; Osteoporosis; Stroke; Tricho rhino phalangeal syndrome; TRPS1

Indexed keywords

SOTALOL; VALPROIC ACID;

ADULT; AKINESIA; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BABINSKI REFLEX; BONE NECROSIS; BRACHYDACTYLY; BRAIN EMBOLISM; BRAIN INFARCTION; BRAIN ISCHEMIA; CANCER SURGERY; CASE REPORT; CYSTADENOCARCINOMA; ECHOCARDIOGRAPHY; EPILEPSY; FACIAL NERVE PARALYSIS; FAINTNESS; FEMALE; HEART ATRIUM ENLARGEMENT; HEART ATRIUM FIBRILLATION; HEART MURMUR; HEMIPARESIS; HUMAN; MINI MENTAL STATE EXAMINATION; MITRAL VALVE PROLAPSE; MITRAL VALVE REGURGITATION; OSTEOCHONDRITIS; OSTEOPOROSIS; PANCREAS RESECTION; PARTIAL CRYPTOGENIC EPILEPSY; PELVIS FRACTURE; PYRAMIDAL SIGN; RIGIDITY; SPASTICITY; SPLENECTOMY; TRICHO RHINO PHALANGEAL SYNDROME TYPE I; VISUAL IMPAIRMENT;

EID: 79960088209     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2011.04.001     Document Type: Article

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