Lack of Major Ophthalmic Findings in Patients with Primary Familial Brain Calcification Linked to SLC20A2 and PDGFB
Author:
Publisher
Springer Science and Business Media LLC
Subject
Cellular and Molecular Neuroscience,General Medicine
Link
http://link.springer.com/content/pdf/10.1007/s12031-018-1250-8.pdf
Reference23 articles.
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2. Biancheri R, Severino M, Robbiano A, Iacomino M, del Sette M, Minetti C, Cervasio M, del Basso de Caro M, Striano P, Zara F (2016) White matter involvement in a family with a novel PDGFB mutation. Neurol Genet 2:e77. https://doi.org/10.1212/NXG.0000000000000077
3. Dickinson ME, Flenniken AM, Ji X et al (2016) High-throughput discovery of novel developmental phenotypes. Nature 537:508–514. https://doi.org/10.1038/nature19356
4. Ferreira JB, Pimentel L, Keasey MP, Lemos RR, Santos LM, Oliveira MF, Santos S, Jensen N, Teixeira K, Pedersen L, Rocha CR, Dias da Silva MR, Oliveira JRM (2014) First report of a De novo mutation at SLC20A2 in a patient with brain calcification. J Mol Neurosci 54:748–751. https://doi.org/10.1007/s12031-014-0357-9
5. Hozumi I, Kurita H, Ozawa K, Furuta N, Inden M, Sekine SI, Yamada M, Hayashi Y, Kimura A, Inuzuka T, Seishima M (2018) Inorganic phosphorus (Pi) in CSF is a biomarker for SLC20A2-associated idiopathic basal ganglia calcification (IBGC1). J Neurol Sci 388:150–154. https://doi.org/10.1016/j.jns.2018.03.014
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