Pontocerebellar Hypoplasia Maps to Chromosome 7q11.23: An Autopsy Case Report of a Novel Genetic Variant

Pontocerebellar hypoplasias are a group of autosomal recessive neurodevelopmetal disorders with varied phenotypic presentations and extensive genetic mutational landscape that are currently classified into ten subtypes. This classification is based predominantly on the genetic iterations as the phen...

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Detalles Bibliográficos
Autores principales: Krishnamurthy, Kritika, Castellano-Sanchez, Amilcar A., Febres-Aldana, Christopher A., Kochiyil, Jyotsna, Brathwaite, Carole, Poppiti, Robert J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6925823/
https://www.ncbi.nlm.nih.gov/pubmed/31885998
http://dx.doi.org/10.1155/2019/7048537

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6925823/
https://www.ncbi.nlm.nih.gov/pubmed/31885998
http://dx.doi.org/10.1155/2019/7048537

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