A novel C2orf37 mutation causes the first Italian cases of Woodhouse Sakati syndrome

Clinical Genetics

Volumn 78, Issue 6, 2010, Pages 594-597

  Steindl, K L ^a,b   Alazami, A M ^c   Bhatia, K P ^d   Wuerfel, J T ^e   Petersen, D ^e   Cartolari, R ^f   Neri, G ^b   Klein, C ^g   Mongiardo, B ^a   Alkuraya, F S ^c   Schneider, S A ^d,g  

^a Medical Genetics osp Belcolle   (Italy)

^b CATHOLIC UNIVERSITY   (Italy)

^c KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

^e Institute of Neuroradiology   (Italy)

^f Neuroimaging Unit osp Belcolle   (Italy)

^g UNIVERSITY OF LÜBECK   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

LEVODOPA;

ADOLESCENCE; ADULT; ALOPECIA; ARM; ARTICLE; AUTOPSY; AUTOSOMAL RECESSIVE DISORDER; BRADYKINESIA; C2ORF37 GENE; CARDIOVASCULAR RISK; CASE REPORT; CAUSE OF DEATH; COGNITIVE DEFECT; COMPLETE HEART BLOCK; DYSARTHRIA; DYSTONIA; EAR LOBE; ECG ABNORMALITY; EXON; EXTRAPYRAMIDAL SYMPTOM; FACE DYSMORPHIA; FAMILY; FEMALE; GENE; GENE INSERTION; GENE MUTATION; GENE SEQUENCE; HEART INFARCTION; HEART VENTRICLE SEPTUM; HEART VENTRICLE WALL; HOMOZYGOSITY; HUMAN; HYPODONTIA; HYPOGONADISM; INCONTINENCE; INSULIN DEPENDENT DIABETES MELLITUS; ITALY; LAPAROSCOPY; LEG; LIMB TREMOR; MALE; MALE GENITAL TRACT MALFORMATION; MENTAL DETERIORATION; MITRAL VALVE PROLAPSE; MUSCLE RIGIDITY; NEUROENDOCRINE DISEASE; NON INSULIN DEPENDENT DIABETES MELLITUS; OPEN READING FRAME; PARKINSONISM; POLYNEUROPATHY; PRIMARY AMENORRHEA; PRIORITY JOURNAL; PYRAMIDAL SIGN; QT PROLONGATION; SEIZURE; SPEECH DISORDER; ST SEGMENT DEPRESSION; STOP CODON; T WAVE; TESTIS; WOODHOUSE SAKATI SYNDROME;

ALOPECIA; ARRHYTHMIAS, CARDIAC; CHROMOSOMES, HUMAN, PAIR 2; DIABETES MELLITUS; FEMALE; HUMANS; HYPOGONADISM; ITALY; MALE; MENTAL RETARDATION; MIDDLE AGED; MUTATION; NUCLEAR PROTEINS; OPEN READING FRAMES; PEDIGREE;

EID: 78149233530     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2010.01447.x     Document Type: Article

References (9)

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