22q11.2 deletion presenting with severe hypocalcaemia, seizure and basal ganglia calcification in an adult man

Internal Medicine Journal

Volumn 41, Issue 1 A, 2011, Pages 63-66

  Cao, Z ^a   Yu, R ^b   Dun, K ^d   Burke, J ^e   Caplin, N ^c   Greenaway, T ^a  

^a Departments of Diabetes and Endocrine Services   (Australia)

^b Departments of General Medicine   (Australia)

^c Departments of Radiology   (Australia)

^d Departments of Cytogenetics Services   (Australia)

^e ROYAL HOBART HOSPITAL   (Australia)

Author keywords

22q11.2 deletion; Adult; Basal ganglia calcification; Hypocalcaemia; Seizure

Indexed keywords

ADULT; ARTICLE; BRAIN CALCIFICATION; CASE REPORT; CHROMOSOME DELETION 22Q11; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CYTOGENETICS; DISEASE SEVERITY; FAHR DISEASE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; HYPOCALCEMIA; HYPOPARATHYROIDISM; MALE; PRIORITY JOURNAL; SEIZURE;

ADULT; AGE OF ONSET; ANTICONVULSANTS; BASAL GANGLIA; BRAIN; CALCINOSIS; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 22; DIGEORGE SYNDROME; EPILEPSY, TONIC-CLONIC; HUMANS; HYPERPHOSPHATEMIA; HYPOCALCEMIA; HYPOPARATHYROIDISM; MALE; PARATHYROID HORMONE; PHENOTYPE; PNEUMONIA, BACTERIAL; TOMOGRAPHY, X-RAY COMPUTED; VALPROIC ACID;

EID: 79251506352     PISSN: 14440903     EISSN: 14455994     Source Type: Journal    
DOI: 10.1111/j.1445-5994.2010.02374.x     Document Type: Article

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