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PSUN280 A Rare Genetic Disorder With Recurrent Hypoglycemic Episodes and Ketonemia Requiring Multidisciplinary Team Management During Pregnancy
INTRODUCTION: Beckwith-Wiedemann syndrome (BWS; OMIM 130650) is a multisystem human genomic imprinting disorder of chromosome 11p15.5. It is characterized by overgrowth and cancer susceptibility and is known to have a highly variable clinical spectrum. The main features include lateralized overgrowt...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Oxford University Press
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9627651/ http://dx.doi.org/10.1210/jendso/bvac150.840 |