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Comparison of perinatal factors in deletion versus uniparental disomy in Prader-Willi syndrome
INTRODUCTION: Prader-Willi syndrome (PWS) is caused by a deficiency of imprinted genes in the 15q11-q13 region and is characterized by prenatal-onset of hypotonia, poor feeding, childhood-onset obesity, hyperphagia, short stature, facial dysmorphism, intellectual disability, and behavioral problems....
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| Publicado en: | Am J Med Genet A |
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| Autores principales: | , , , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
2018
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5918292/ https://ncbi.nlm.nih.gov/pubmed/29681103 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.38679 |
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