Yüklüyor......
7q35 Microdeletion and 15q13.3 and Xp22.33 Microduplications in a Patient with Severe Myoclonic Epilepsy, Microcephaly, Dysmorphisms, Severe Psychomotor Delay and Intellectual Disability
Copy number variations (CNVs) play a key role in the pathogenesis of several diseases, including a wide range of neurodevelopmental disorders. Here, we describe the detection of three CNVs simultaneously in a female patient with evidence of severe myoclonic epilepsy, microcephaly, hypertelorism, dim...
Kaydedildi:
| Yayımlandı: | Genes (Basel) |
|---|---|
| Asıl Yazarlar: | , , , , , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
MDPI
2020
|
| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7288449/ https://ncbi.nlm.nih.gov/pubmed/32397165 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes11050525 |
| Etiketler: |
Etiketle
Etiket eklenmemiş, İlk siz ekleyin!
|