Review Note
Last Update: 10/14/2024 04:58 AM
Current Deck: Genes and Development::Week 2::LE014 Non-Mendelian Inheritance Part 1
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{{c1::Beckwith Wiedemann Syndrome (BWS)}}
- Presentation: Macrosomia (large for gestational age), macroglossia (large tongue), nephro/adrenomegaly, omphalocele (abdominal wall defect), kidney/liver/adrenal tumor syndrome, renal problems, neonatal hypoglycemia
- Genetics: Loss of maternally expressed alleles at {{c1::11p15.5}}, imprinting disorder
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