PPP2R5D-related intellectual disability and neurodevelopmental delay – the first case in the Czech Republic


Authors: K. Slabá 1;  H. Pálová 2;  P. Veselá 2;  Š. Aulická 2,3;  P. Konečná 1;  M. Štěrba 1;  P. Jabandžiev 1,2;  O. Slabý 2,4;  D. Procházková 1,5
Authors‘ workplace: Pediatrická klinika, LF MU a FN Brno 1;  CEITEC, MU, Brno 2;  Klinika dětské neurologie, LF MU a FN Brno 3;  Biologický ústav, LF MU, Brno 4;  Ústav lékařské genetiky a genomiky, LF MU a FN Brno 5
Published in: Cesk Slov Neurol N 2021; 84/117(2): 205-207
Category: Letter to Editor
doi: 10.48095/cccsnn2021205


Sources

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5. Loveday C, Tatton-Brown K, Clarke M et al. Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth. HumMol Genet 2015; 24(17): 4775–4779. doi: 10.1093/ hmg/ ddv182.

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7. Shang L, Henderson LB, Cho MT et al. De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism. Neurogenetics 2016; 17(1): 43–49. doi: 10.1007/ s10048-015-0466-9.

8. Fitzgerald TW, Gerety SS, Jones WD et al. Deciphering Developmental Disorders Study. Large-scale discovery of novel genetic causes of developmental disorders. Nature 2015; 519(7542): 223–228. doi: 10.1038/ nature 14135.

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Labels
Paediatric neurology Neurosurgery Neurology

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Czech and Slovak Neurology and Neurosurgery

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2021 Issue 2

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