Title

Intracranial calcifications and dystonia associated with a novel deletion of chromosome 8p11.2 encompassing

Document Type

Journal Article

Publication Date

5-27-2019

Journal

BMJ Case Reports

Volume

12

Issue

5

DOI

10.1136/bcr-2018-228782

Keywords

Apoptosis Regulatory Proteins; Brain Diseases; Calcinosis; Child; Chromosomes, Human, Pair 2; DNA-Binding Proteins; Dystonia; Gene Deletion; Haploinsufficiency; Heterozygote; Humans; Male; Microarray Analysis; Movement Disorders; Nervous System Malformations; Polymorphism, Single Nucleotide; Sodium-Phosphate Cotransporter Proteins, Type III

Peer Reviewed

1

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