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Blended Phenotype of Silver-Russell Syndrome and SPG50 Caused by Maternal Isodisomy of Chromosome 7

OBJECTIVE: Uniparental isodisomy can lead to blended phenotypes of imprinting disorders and autosomal recessive diseases. To determine whether a complex neurodevelopmental disorder was caused by uniparental isodisomy, a detailed clinical and molecular characterization was performed. METHODS: A combi...

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Detalles Bibliográficos
Autores principales:	Ziegler, Marvin, Russell, Bianca E., Eberhardt, Kathrin, Geisel, Gregory, D'Amore, Angelica, Sahin, Mustafa, Kornblum, Harley I., Ebrahimi-Fakhari, Darius
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer 2020
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7862086/ https://www.ncbi.nlm.nih.gov/pubmed/33553621 http://dx.doi.org/10.1212/NXG.0000000000000544

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