G. Nicolas, C. Charbonnier, and R. De-lemos, Brain calcification process and phenotypes according to age and sex: Lessons from SLC20A2, PDGFB, and PDGFRB mutation carriers, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics, 2015.

C. Wang, Y. Li, and L. Shi, Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis. Nature genetics 2012 Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification, Neurology, vol.380, pp.181-187, 2013.

A. Keller, A. Westenberger, and M. Sobrido, PDGFB mutations cause brain calcifications in humans and mice Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export. Nature genetics 2015. 6. Nicolas G, Rovelet-Lecrux A, Pottier C, et al. PDGFB partial deletion: a new, rare mechanism causing brain calcification with leukoencephalopathy, Nature genetics Journal of molecular neuroscience : MN, vol.53, pp.171-175, 2013.

M. Baker, A. Strongosky, and M. Sanchez-contreras, SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia, neurogenetics, vol.80, issue.2, 2013.
DOI : 10.1007/s10048-013-0378-5

M. Vanlandewijck, T. Lebouvier, A. Mae, and M. , Functional Characterization of Germline Mutations in PDGFB and PDGFRB in Primary Familial Brain Calcification, PLOS ONE, vol.17, issue.Pt 1, p.143407, 2015.
DOI : 10.1371/journal.pone.0143407.s006

G. Nicolas, C. Pottier, and C. Charbonnier, Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification, Brain, vol.136, issue.11, pp.3395-3407, 2013.
DOI : 10.1093/brain/awt255

URL : https://hal.archives-ouvertes.fr/hal-01133847

H. Li, R. Durbin, A. Mckenna, M. Hanna, and E. Banks, Fast and accurate long-read alignment with Burrows-Wheeler transform The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data CANOES: detecting rare copy number variants from whole exome sequencing data, Bioinformatics Genome research Nucleic acids research, vol.262042, issue.12, pp.589-5951297, 2010.

S. Hsu, R. Sears, and R. Lemos, Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification Brain calcification process and phenotypes according to age and sex: Lessons from SLC20A2, PDGFB, and PDGFRB mutation carriers American journal of medical genetics Part B, Neuropsychiatric genetics : the official publication of the International Society of Mapping of the minimal inorganic phosphate transporting unit of human PiT2 suggests a structure universal to PiT-related proteins from all kingdoms of life, Neurogenetics Psychiatric Genetics BMC biochemistry, vol.1416812, issue.15, pp.586-59421, 2011.