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Blended Phenotype of Prader-Willi Syndrome and HSP-SPG11 Caused by Maternal Uniparental Isodisomy
OBJECTIVE: Uniparental isodisomy can lead to blended phenotypes of imprinting disorders and autosomal recessive diseases. To determine whether a presentation of Prader-Willi syndrome (PWS) and progressive neurologic symptoms was caused by uniparental isodisomy, a detailed clinical and molecular char...
Autores principales: | Kunta, Avaneesh R., Jueng, Jeremy, Jordan, Catherine, Kojic, Jasna, Mo, Alisa, Ebrahimi-Fakhari, Darius |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9747140/ https://www.ncbi.nlm.nih.gov/pubmed/36524102 http://dx.doi.org/10.1212/NXG.0000000000200041 |
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