A De Novo FOXP1 Truncating Mutation in a Patient Originally Diagnosed as C Syndrome-Reference-Cited by-同舟云学术

A De Novo FOXP1 Truncating Mutation in a Patient Originally Diagnosed as C Syndrome

Published:2018-01-12 Issue:1 Volume:8 Page:
ISSN:2045-2322
Container-title:Scientific Reports
language:en
Short-container-title:Sci Rep

Author:

Urreizti Roser,Damanti Sarah,Esteve Carla,Franco-Valls Héctor,Castilla-Vallmanya Laura,Tonda Raul,Cormand Bru,Vilageliu Lluïsa,Opitz John M.,Neri Giovanni,Grinberg Daniel,Balcells Susana

Publisher

Springer Science and Business Media LLC

Subject

Multidisciplinary

Link

http://www.nature.com/articles/s41598-017-19109-9.pdf

Reference32 articles.

1. Thevenon, J. et al. Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test. Clin Genet 89, 700–707 (2016).

2. Soden, S. E. et al. Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders. Sci Transl Med 6, 265ra168 (2014).

3. Tetreault, M., Bareke, E., Nadaf, J., Alirezaie, N. & Majewski, J. Whole-exome sequencing as a diagnostic tool: current challenges and future opportunities. Expert Rev Mol Diagn 15, 749–760 (2015).

4. Evers, C. et al. Impact of clinical exomes in neurodevelopmental and neurometabolic disorders. Mol Genet Metab 121, 297–307 (2017).

5. Shi, C. et al. Down-regulation of the forkhead transcription factor Foxp1 is required for monocyte differentiation and macrophage function. Blood 112, 4699–4711 (2008).

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