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

• Egile Nagusiak: Kritika Krishnamurthy (Egilea), Amilcar A. Castellano-Sanchez (Egilea), Christopher A. Febres-Aldana (Egilea), Jyotsna Kochiyil (Egilea), Carole Brathwaite (Egilea), Robert J. Poppiti (Egilea)
• Formatua: Liburua
• Argitaratua: Hindawi Limited, 2019-01-01T00:00:00Z.
• Gaiak: article
• Sarrera elektronikoa: Connect to this object online.

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...