Clinical and radiological findings in Schinzel–Giedion syndrome-Reference-Cited by-同舟云学术

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Clinical and radiological findings in Schinzel–Giedion syndrome

Published:2008-05-07 Issue:12 Volume:167 Page:1399-1407
ISSN:0340-6199
Container-title:European Journal of Pediatrics
language:en
Short-container-title:Eur J Pediatr

Author:

AL-Mudaffer Mudaffer,Oley Christine,Price Sue,Hayes Ian,Stewart Alison,Hall Christine M.,Reardon William

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology, and Child Health

Link

http://link.springer.com/content/pdf/10.1007/s00431-008-0683-4.pdf

Reference34 articles.

1. Al-Gazali LI, Farndon P, Burn J, Flannery DB, Davision C, Mueller RF (1990) The Schinzel–Giedion syndrome. J Med Genet 27:42–44

2. Alavi S, Kher A, Bharucha BA (1994) Schinzel-Giedion syndrome. Indian Pediatr 31:1111–1114

3. Albano LMJ, Sakae PPO, Bozzo Mataloun MMG, Rodrigues Leone C, Kim CA (2004) Hydronephrosis in Schinzel–Giedion syndrome: an important clue for the diagnosis. Rev Hosp Clin Fac Med S Paulo 59:89–92

4. Antich J, Manzanares R, Camarasa F, Krauel X, Villa J, Cusi V (1995) Schinzel–Giedion syndrome: a report of two sibs. Am J Med Genet 59:96–99

5. Shah AM, Smith MF, Griffiths PD, Quarrell OWJ (1999) Schinzel–Giedion syndrome: evidence for a neurodegenerative process. Am J Med Genet 82:344–347

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1. Schinzel-Giedion syndrome: a rare cause of psychomotor delay and refractory seizures;Global Pediatrics;2024-03

2. Neurology;Internal Medicine;2023

3. Whole-genome sequencing combined RNA-sequencing analysis of patients with mutations in SET binding protein 1;Frontiers in Neuroscience;2022-09-07

4. SETBP1 variants outside the degron disrupt DNA-binding and transcription independent of protein abundance to cause a heterogeneous neurodevelopmental disorder;2022-03-08

5. SETBP1 accumulation induces P53 inhibition and genotoxic stress in neural progenitors underlying neurodegeneration in Schinzel-Giedion syndrome;Nature Communications;2021-06-30

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