Novel compound heterozygous mutations in TELO2 in a patient with severe expression of You‐Hoover‐Fong syndrome

BACKGROUND: Very recently, compound heterozygous loss‐of‐function mutations in TELO2 were shown to underlie the newly‐described You‐Hoover‐Fong syndrome. TELO2 forms part of the co‐chaperone triple T complex (TTT complex), which plays an important role in the maturation and stabilization of the phos...

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Detalles Bibliográficos
Autores principales: Moosa, Shahida, Altmüller, Janine, Lyngbye, Troels, Christensen, Rikke, Li, Yun, Nürnberg, Peter, Yigit, Gökhan, Vogel, Ida, Wollnik, Bernd
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5606883/
https://www.ncbi.nlm.nih.gov/pubmed/28944240
http://dx.doi.org/10.1002/mgg3.287

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5606883/
https://www.ncbi.nlm.nih.gov/pubmed/28944240
http://dx.doi.org/10.1002/mgg3.287

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