Donohue syndrome in a neonate with homozygous deletion of exon 3 of the insulin receptor gene

Journal of Pediatric Endocrinology and Metabolism

Volumn 22, Issue 7, 2009, Pages 669-674

  Unal, Sevim ^a,d   Aycan, Zehra ^a   Halsall, David J ^b   Kibar, A Esin ^c   Eker, Sevda ^c   Ozaydin, Eda ^c  

^a Second Neurosurgery Clinic   (Turkey)

^b ADDENBROOKE S HOSPITAL   (United Kingdom)

^c MINISTRY OF HEALTH   (Turkey)

^d NONE   (Turkey)

Author keywords

Deletion; Donohue syndrome; Exon 3; Insulin resistance; Leprechaunism

Indexed keywords

C PEPTIDE; GLUCOSE; INSULIN; INSULIN RECEPTOR; METFORMIN; RECOMBINANT GROWTH FACTOR; RECOMBINANT SOMATOMEDIN I; UNCLASSIFIED DRUG;

ABDOMINAL DISTENSION; ACANTHOSIS NIGRICANS; APGAR SCORE; ARTICLE; AUTOPSY; CASE REPORT; CHEMICAL ANALYSIS; CHOLESTASIS; CLINICAL FEATURE; DIABETES MELLITUS; DIET RESTRICTION; DISEASE COURSE; DISEASE SEVERITY; DRUG DOSE INCREASE; DRUG MEGADOSE; EAR MALFORMATION; ECHOGRAPHY; EXON; FACE DYSMORPHIA; FACE MALFORMATION; FEEDING DISORDER; FEMALE; GASTROINTESTINAL SYMPTOM; GENE DELETION; GENITAL MALFORMATION; GLUCOSURIA; HEPATOMEGALY; HOMOZYGOSITY; HUMAN; HYPERGLYCEMIA; HYPERINSULINEMIA; HYPERINSULINISM; HYPERTRICHOSIS; HYPOGLYCEMIA; INSULIN BLOOD LEVEL; INTRAUTERINE GROWTH RETARDATION; KIDNEY HYPERTROPHY; LABORATORY TEST; LEPRECHAUNISM; MICROGNATHIA; NEWBORN; NIPPLE MALFORMATION; NON INSULIN DEPENDENT DIABETES MELLITUS; NOSE MALFORMATION; ORAL GLUCOSE TOLERANCE TEST; OVARY HYPERTROPHY; PHYSICAL EXAMINATION; POLYMERASE CHAIN REACTION; PREGNANCY DIABETES MELLITUS; SUBCUTANEOUS FAT; VOMITING;

EID: 69949188346     PISSN: 0334018X     EISSN: None     Source Type: Journal    
DOI: 10.1515/JPEM.2009.22.7.669     Document Type: Article

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