Yüklüyor......
Novel FOXL2 mutations in two Chinese families with blepharophimosis-ptosis-epicanthus inversus syndrome
BACKGROUND: Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare autosomal dominant disease. Mutations in the forkhead box L2 (FOXL2) gene cause two types of BPES distinguished by the presence (type I) and absence (type II) of premature ovarian failure (POF). The purpose of this stu...
Kaydedildi:
| Yayımlandı: | BMC Med Genet |
|---|---|
| Asıl Yazarlar: | , , , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
BioMed Central
2015
|
| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4593235/ https://ncbi.nlm.nih.gov/pubmed/26323275 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-015-0217-7 |
| Etiketler: |
Etiketle
Etiket eklenmemiş, İlk siz ekleyin!
|