Digenic Variants as Possible Clinical Modifier of Primary Familial Brain Calcification Patients
Author:
Publisher
Springer Science and Business Media LLC
Subject
Cellular and Molecular Neuroscience,General Medicine
Link
http://link.springer.com/content/pdf/10.1007/s12031-019-01430-9.pdf
Reference18 articles.
1. Baker M, Strongosky AJ, Sanchez-Contreras MY et al (2014) SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia. Neurogenetics. https://doi.org/10.1007/s10048-013-0378-5
2. DeMeo NN, Burgess JD, Blackburn PR et al (2018) Co-occurrence of a novel PDGFRB variant and likely pathogenic variant in CASR in an individual with extensive intracranial calcifications and hypocalcaemia. Clin Case Rep. https://doi.org/10.1002/ccr3.1265
3. Fjaer R, Brodtkorb E, Øye AM et al (2015) Generalized epilepsy in a family with basal ganglia calcifications and mutations in SLC20A2 and CHRNB2. Eur J Med Genet. https://doi.org/10.1016/j.ejmg.2015.10.005
4. Fujioka S, Strongosky AJ, Hassan A et al (2015) Clinical presentation of a patient with SLC20A2 and THAP1 deletions: differential diagnosis of oromandibular dystonia. Parkinsonism Relat Disord 21:329–331.https://doi.org/10.1016/j.parkreldis.2014.12.024
5. Gazzo AM, Daneels D, Cilia E et al (2016) DIDA: a curated and annotated digenic diseases database. Nucleic Acids Res. https://doi.org/10.1093/nar/gkv1068
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