A case of Friedreich ataxia in an adolescent with 16p11.2 microdeletion syndrome
Author:
Publisher
Springer Science and Business Media LLC
Subject
Psychiatry and Mental health,Clinical Neurology,Dermatology,General Medicine
Link
http://link.springer.com/content/pdf/10.1007/s10072-019-04075-z.pdf
Reference5 articles.
1. Bamonte L (2015 Spring) Developmental presentation, medical complexities, and service delivery for a child with 16p11.2 deletion syndrome. Pediatr Phys Ther 27(1):90–99. https://doi.org/10.1097/PEP.0000000000000105
2. Steinman KJ, Spence SJ, Ramocki MB, Proud MB, Kessler SK, Marco EJ, Green Snyder LA, D'Angelo D, Chen Q, Chung WK, Sherr EH, on behalf of the Simons VIP Consortium (2016) 16p11.2 deletion and duplication: characterizing neurologic phenotypes in a large clinically ascertained cohort. Am J Med Genet A 170(11):2943–2955. https://doi.org/10.1002/ajmg.a.37820
3. Zufferey F, Sherr EH, Beckmann ND, Hanson E, Maillard AM, Hippolyte L, Macé A, Ferrari C, Kutalik Z, Andrieux J, Aylward E, Barker M, Bernier R, Bouquillon S, Conus P, Delobel B, Faucett WA, Goin-Kochel RP, Grant E, Harewood L, Hunter JV, Lebon S, Ledbetter DH, Martin CL, Männik K, Martinet D, Mukherjee P, Ramocki MB, Spence SJ, Steinman KJ, Tjernagel J, Spiro JE, Reymond A, Beckmann JS, Chung WK, Jacquemont S, on behalf of the Simons VIP Consortium, on behalf of the 16p11.2 European Consortium (2012) A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders. J Med Genet 49(10):660–668. https://doi.org/10.1136/jmedgenet-2012-101203
4. Bürk K (2017) Friedreich ataxia: current status and future prospects. Cerebellum Ataxias 4:4. https://doi.org/10.1186/s40673-017-0062-x
5. Cook A, Giunti P (2017) Friedreich’s ataxia: clinical features, pathogenesis and management. Br Med Bull 124(1):19–30. https://doi.org/10.1093/bmb/ldx034
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