Microdeletions Including FMR1 in Three Female Patients with Intellectual Disability – Further Delineation of the Phenotype and Expression Studies

Fragile X syndrome (FXS) is one of the most common causes of intellectual disability/developmental delay (ID/DD), especially in males. It is caused most often by CGG trinucleotide repeat expansions, and less frequently by point mutations and partial or full deletions of the FMR1 gene. The wide clini...

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Detalhes bibliográficos
Main Authors: Zink, A.M., Wohlleber, E., Engels, H., Rødningen, O.K., Ravn, K., Heilmann, S., Rehnitz, J., Katzorke, N., Kraus, C., Blichfeldt, S., Hoffmann, P., Reutter, H., Brockschmidt, F.F., Kreiß-Nachtsheim, M., Vogt, P.H., Prescott, T.E., Tümer, Z., Lee, J.A.
Formato: Artigo
Idioma:Inglês
Publicado em: S. Karger AG 2014
Assuntos:
Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3977317/
https://ncbi.nlm.nih.gov/pubmed/24715853
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000357962
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