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A Homozygous IER3IP1 Mutation Causes Microcephaly With Simplified Gyral Pattern, Epilepsy, and Permanent Neonatal Diabetes Syndrome (MEDS)
Wolcott–Rallison syndrome (WRS) and the recently delineated microcephaly with simplified gyration, epilepsy, and permanent neonatal diabetes syndrome (MEDS) are clinically overlapping autosomal recessive disorders characterized by early onset diabetes, skeletal defects, and growth retardation. While...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wiley Subscription Services, Inc., A Wiley Company
2012
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3477270/ https://www.ncbi.nlm.nih.gov/pubmed/22991235 http://dx.doi.org/10.1002/ajmg.a.35583 |