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...

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Detalles Bibliográficos
Autores principales: Kunta, Avaneesh R., Jueng, Jeremy, Jordan, Catherine, Kojic, Jasna, Mo, Alisa, Ebrahimi-Fakhari, Darius
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2022
Materias:
Clinical/Scientific Note
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

Internet

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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