A novel mutation of the insulin receptor gene in a preterm infant with Donohue syndrome and heart failure

Journal of Pediatric Endocrinology and Metabolism

Volumn 25, Issue 3-4, 2012, Pages 363-366

  Nobile, Stefano ^a   Semple, Robert K ^b   Carnielli, Virgilio P ^a  

^a OSPEDALI RIUNITI   (Italy)

^b UNIVERSITY OF CAMBRIDGE   (United Kingdom)

Author keywords

Donohue syndrome; heart failure; insulin receptor gene; preterm

Indexed keywords

INSULIN RECEPTOR; PROPRANOLOL;

APGAR SCORE; ARTICLE; AUTOPSY; CASE REPORT; CESAREAN SECTION; CHOLESTASIS; ECHOCARDIOGRAPHY; GENETIC ANALYSIS; HEART ATRIUM SEPTUM DEFECT; HEART FAILURE; HEPATOMEGALY; HUMAN; HUMAN TISSUE; HYPERGLYCEMIA; HYPERTRICHOSIS; HYPERTRIGLYCERIDEMIA; HYPERTROPHIC CARDIOMYOPATHY; LEPRECHAUNISM; MALE; NONSENSE MUTATION; PATENT DUCTUS ARTERIOSUS; PREMATURITY;

CARDIOMYOPATHY, HYPERTROPHIC; DONOHUE SYNDROME; ECHOCARDIOGRAPHY; FATAL OUTCOME; HEART FAILURE; HUMANS; INFANT, NEWBORN; INFANT, PREMATURE; MALE; MUTATION; RECEPTOR, INSULIN;

EID: 84861617752     PISSN: 0334018X     EISSN: 21910251     Source Type: Journal    
DOI: 10.1515/jpem-2011-0448     Document Type: Article

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