Загрузка...
An Individual with Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome (BPES) and Additional Features Expands the Phenotype Associated with Mutations in KAT6B
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome (BPES) is an autosomal dominant disorder caused by mutations in FOXL2. We identified an individual with BPES and additional phenotypic features who did not have a FOXL2 mutation. We used whole exome sequencing to identify a de novo mutation in KAT...
Сохранить в:
| Опубликовано в: : | Am J Med Genet A |
|---|---|
| Главные авторы: | , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
2014
|
| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4414115/ https://ncbi.nlm.nih.gov/pubmed/24458743 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.36379 |
| Метки: |
Добавить метку
Нет меток, Требуется 1-ая метка записи!
|