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Developmental Medicine & Child Neurology, ISSN 0012-1622, 04/2014, Volume 56, Issue 4, pp. 386 - 389
Infantile neuroaxonal dystrophy (INAD) is a rare autosomal recessive neurodegenerative disorder caused by mutations in the phospholipase A2 group 6 (Pla2G6)... 
NEURODEGENERATION | DISORDERS | PEDIATRICS | SPECTRUM | PLA2G6 | CLINICAL NEUROLOGY | Magnetic Resonance Imaging | Uniparental Disomy - genetics | Group VI Phospholipases A2 - genetics | Humans | Female | Infant | Uniparental Disomy - physiopathology | Neuroaxonal Dystrophies - genetics
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 10/2015, Volume 23, Issue 11, pp. 1488 - 1498
Journal Article
Journal Article
Journal of Assisted Reproduction and Genetics, ISSN 1058-0468, 10/2009, Volume 26, Issue 9, pp. 477 - 486
Journal Article
by Wang, Y and Cheng, Q and Meng, L and Luo, C and Hu, H and Zhang, J and Cheng, J and Xu, T and Jiang, T and Liang, D and Hu, P and Xu, Z
Clinical Genetics, ISSN 0009-9163, 06/2017, Volume 91, Issue 6, pp. 849 - 858
Journal Article
Journal Article
Endocrine Journal, ISSN 0918-8959, 2013, Volume 60, Issue 4, pp. 403 - 408
Beckwith-Wiedemann syndrome (BWS) is the most common congenital overgrowth syndrome involving tumor predisposition. BWS is caused by various epigenetic or... 
Beckwith-Wiedemann syndrome | 18F-fluoro-L-DOPA positron emission tomography | Uniparental disomy 11p15 | Congenital hyperinsulinism | Beckwith-wiedemann syndrome | F-18-fluoro-L-DOPA positron emission tomography | DIAGNOSIS | ABNORMALITIES | ENDOCRINOLOGY & METABOLISM | TUMOR RISK | Uniparental Disomy - diagnosis | Receptors, Drug - genetics | Humans | Beckwith-Wiedemann Syndrome - drug therapy | Beckwith-Wiedemann Syndrome - diagnosis | Sulfonylurea Receptors | Uniparental Disomy - physiopathology | Potassium Channels, Inwardly Rectifying - chemistry | Beckwith-Wiedemann Syndrome - genetics | Hypoglycemia - prevention & control | ATP-Binding Cassette Transporters - chemistry | Congenital Hyperinsulinism - genetics | ATP-Binding Cassette Transporters - genetics | Female | Octreotide - administration & dosage | Hydronephrosis - etiology | Congenital Hyperinsulinism - prevention & control | Infant, Newborn | Beckwith-Wiedemann Syndrome - physiopathology | Severity of Illness Index | Hydronephrosis - prevention & control | Potassium Channels, Inwardly Rectifying - genetics | Treatment Outcome | Chromosomes, Human, Pair 11 - genetics | Octreotide - therapeutic use | Receptors, Drug - chemistry | Uniparental Disomy - genetics | Hypoglycemia - etiology | Insulin Antagonists - administration & dosage | Insulin Antagonists - therapeutic use | Mosaicism | Polymorphism, Single Nucleotide | Drug Monitoring
Journal Article
Journal Article