A whole exome sequencing study of a Korean proband with idiopathic basal ganglia calcification and its daughter

Idiopathic basal ganglia calcification (IBGC) is characterized by brain calcification and a wide variety of neurological and psychiatric symptoms. In families displaying an autosomal dominant inheritance pattern, three causative genes have been identified: SLC20A2, PDGFRB, and very recently, PDGFB....

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Detalles Bibliográficos
Autores principales: Lee, Byung Dae, Kong, Ja Young, Kwon, Chae Hwa, Park, Je Min, Lee, Young Min, Moon, Eunsoo, Jeong, Hee Jeong, Kim, Soo Yeon, Lee, Kang Yoon, Suh, Hwagyu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6211901/
https://www.ncbi.nlm.nih.gov/pubmed/30335026
http://dx.doi.org/10.1097/MD.0000000000012918

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