TCF12 microdeletion in a 72‐year‐old woman with intellectual disability

Heterozygous mutations in TCF12 were recently identified as an important cause of craniosynostosis. In the original series, 14% of patients with a mutation in TCF12 had significant developmental delay or learning disability. We report on the first case of TCF12 microdeletion, detected by array‐compa...

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Vydáno v:Am J Med Genet A
Hlavní autoři: Piard, Juliette, Rozé, Virginie, Czorny, Alain, Lenoir, Marion, Valduga, Mylène, Fenwick, Aimée L., Wilkie, Andrew O. M., Maldergem, Lionel Van
Médium: Artigo
Jazyk:Inglês
Vydáno: John Wiley and Sons Inc. 2015
Témata:
Clinical Reports
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4654244/
https://ncbi.nlm.nih.gov/pubmed/25871887
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.37083
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