Long term follow up of two independent patients with Schinzel–Giedion carrying SETBP1 mutations-Reference-Cited by-同舟云学术

Long term follow up of two independent patients with Schinzel–Giedion carrying SETBP1 mutations

Published:2015-09 Issue:9 Volume:58 Page:479-487
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Herenger Yvan,Stoetzel Corinne,Schaefer Elise,Scheidecker Sophie,Manière Marie-Cécile,Pelletier Valérie,Alembik Yves,Christmann Dominique,Clavert Jean-Michel,Terzic Joelle,Fischbach Michel,De Saint Martin Anne,Dollfus Hélène

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference22 articles.

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

2. The genetic basis of inherited anomalies of the teeth. Part 2: syndromes with significant dental involvement;Bailleul-Forestier;Eur. J. Med. Genet.,2008

3. Schinzel-Giedion syndrome in two Brazilian patients: report of a novel mutation in SETBP1 and literature review of the clinical features;Carvalho;Am. J. Med. Genet. A,2015

4. Schinzel-Giedion syndrome: interesting facial and orodental features, and dental management;Cooke;Int. J. Paediatr. Dent. Br. Paedodontic Soc. Int. Assoc. Dent. Child.,2002

5. A further case of a new syndrome including midface retraction, hypertrichosis, and skeletal anomalies;Donnai;J. Med. Genet.,1979

Cited by 19 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. Novel SETBP1 D874V adjacent to the degron causes canonical schinzel–giedion syndrome: a case report and review of the literature;BMC Pediatrics;2024-05-06

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

3. Balanced SET levels favor the correct enhancer repertoire during cell fate acquisition;Nature Communications;2023-06-03

4. Identification of a novel de novo mutation of SETBP1 and new findings of SETBP1 in tumorgenesis;Orphanet Journal of Rare Diseases;2023-05-07

5. Could exposure to spaceflight cause mutations in genes that affect male fertility?;Life Sciences in Space Research;2023-05