Schinzel-Giedion syndrome in two Brazilian patients: Report of a novel mutation inSETBP1and literature review of the clinical features-Reference-Cited by-同舟云学术

Schinzel-Giedion syndrome in two Brazilian patients: Report of a novel mutation inSETBP1and literature review of the clinical features

Published:2015-02-07 Issue:5 Volume:167 Page:1039-1046
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Carvalho Ellaine¹,Honjo Rachel¹,Magalhães Monize²,Yamamoto Guilherme¹²,Rocha Katia²,Naslavsky Michel²,Zatz Mayana²,Passos-Bueno Maria Rita²,Kim Chong¹,Bertola Debora¹²

Affiliation:

1. Genetics Unit; Instituto da Criança; Hospital das Clínicas; Faculdade de Medicina da Universidade de São Paulo; Sao Paulo Brazil

2. Centro de Estudos do Genoma Humano; Departamento de Biologia; Instituto de Biociências; Universidade de São Paulo; Sao Paulo Brazil

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36789/fullpdf

Reference45 articles.

1. The Schinzel-Giedion syndrome;Al-Gazali;J Med Genet,1990

2. Clinical and radiological findings in Schinzel-Giedion syndrome;Al-Mudaffer;Eur J Pediatr,2008

3. Schinzel-Giedion syndrome;Alavi;Indian Pediatr,1994

4. Hydronephrosis in Schinzel-Giedion syndrome: An important clue for the diagnosis;Albano;Rev Hosp Clin Fac Med Sao Paulo,2004

5. Schinzel-Giedion syndrome with severe deafness and neurodegenerative process;Alembik;Ann Genet,1999

Cited by 22 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panel;European Journal of Paediatric Neurology;2024-01

2. Cell‐type‐specific gene expression and regulation in the cerebral cortex and kidney of atypical Setbp1^S858R Schinzel Giedion Syndrome mice;Journal of Cellular and Molecular Medicine;2023-10-23

3. The impact of SETBP1 mutations in neurological diseases and cancer;Genes to Cells;2023-07-25

4. Impaired neurogenesis and neural progenitor fate choice in a human stem cell model of SETBP1 disorder;Molecular Autism;2023-02-20

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