Differences in the clinical spectrum of two adolescent male patients with Alström syndrome

Clinical Dysmorphology

Volumn 22, Issue 1, 2013, Pages 7-12

  Kuburović, Vladimir ^a   Marshall, Jan D ^b   Collin, Gayle B ^b   Nykamp, Keith ^c   Kuburović, Nina ^a   Milenković, Tatjana ^a   Rakić, Sanja ^a   Djuric, Milena ^a   Ječmenica, Jovana ^a   Milenković, Svetislav ^a   Naggert, Jürgen K ^b  

^a UNIVERSITY OF BELGRADE   (Serbia)

^b JACKSON LABORATORY   (United States)

^c Prevention Genetics   (United States)

Author keywords

ALMS1; Alstr m syndrome; hypogonadotropic hypogonadism; partial lipodystrophy; tonic clonic epilepsy

Indexed keywords

ALBUMIN; AMINOTRANSFERASE; C REACTIVE PROTEIN; CARBAMAZEPINE; GAMMA GLUTAMYLTRANSFERASE; TRIACYLGLYCEROL;

ACANTHOSIS NIGRICANS; ADOLESCENT; ALSTROM SYNDROME; AMINOTRANSFERASE BLOOD LEVEL; ARTICLE; ATRIOVENTRICULAR BLOCK; CASE REPORT; CONGESTIVE CARDIOMYOPATHY; CONGESTIVE HEART FAILURE; CREATININE CLEARANCE; ECHOCARDIOGRAPHY; FOLLOW UP; GAMMA GLUTAMYL TRANSFERASE BLOOD LEVEL; GENE MUTATION; GLOMERULUS FILTRATION RATE; GYNECOMASTIA; HEART ATRIUM CONTRACTION; HEART EJECTION FRACTION; HOLTER MONITORING; HUMAN; HYPERLIPIDEMIA; HYPERTENSION; HYPOGONADISM; HYPOGONADOTROPIC HYPOGONADISM; INOTROPISM; INSULIN RESISTANCE; LIPODYSTROPHY; LIVER DYSFUNCTION; MALE; OBESITY; PERICARDIAL EFFUSION; PRIORITY JOURNAL; PROTEINURIA; ST SEGMENT DEPRESSION; SUPRAVENTRICULAR TACHYCARDIA; TRIACYLGLYCEROL BLOOD LEVEL; UREA NITROGEN BLOOD LEVEL;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ALSTROM SYNDROME; COGNITION DISORDERS; DELAYED DIAGNOSIS; DNA MUTATIONAL ANALYSIS; DYSLIPIDEMIAS; HUMANS; INFANT; INSULIN RESISTANCE; MALE; MUTATION; OBESITY; PROTEINS; SEIZURES; SERBIA;

EID: 84871776772     PISSN: 09628827     EISSN: 14735717     Source Type: Journal    
DOI: 10.1097/MCD.0b013e32835b9017     Document Type: Article

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