Загрузка...
Novel variant in the FGD1 gene causing Aarskog-Scott syndrome
Aarskog-Scott syndrome (ASS) is a rare, X-linked recessive inherited disorder. Affected individuals may develop short stature and exhibit distinctive skeletal and genital development. Mutations in the FYVE, rhogef and pleckstrin homology domain-containing protein 1 (FGD1) gene, located within the Xp...
Сохранить в:
| Опубликовано в: : | Exp Ther Med |
|---|---|
| Главные авторы: | , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
D.A. Spandidos
2017
|
| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5450764/ https://ncbi.nlm.nih.gov/pubmed/28587322 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3892/etm.2017.4301 |
| Метки: |
Добавить метку
Нет меток, Требуется 1-ая метка записи!
|