Xq28 (MECP2) microdeletions are common in mutation-negative females with Rett syndrome and cause mild subtypes of the disease

BACKGROUND: Rett syndrome (RTT) is an X-linked neurodevelopmental disease affecting predominantly females caused by MECP2 mutations. Although RTT is classically considered a monogenic disease, a stable proportion of patients, who do not exhibit MECP2 sequence variations, does exist. Here, we have at...

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Hlavní autoři: Iourov, Ivan Y, Vorsanova, Svetlana G, Voinova, Victoria Y, Kurinnaia, Oxana S, Zelenova, Maria A, Demidova, Irina A, Yurov, Yuri B
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2013
Témata:
Research
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4176196/
https://ncbi.nlm.nih.gov/pubmed/24283533
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1755-8166-6-53
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