Загрузка...
Variable Penetrance of the 15q11.2 BP1-BP2 Microduplication in a Family with Cognitive and Language Impairment
The 15q11.2 BP1-BP2 region is found duplicated or deleted in people with cognitive, language, and behavioral impairment. We report on a family (a father and 3 male twin siblings) that presents with a duplication of the 15q11.2 BP1-BP2 region and a variable phenotype: the father and the fraternal twi...
Сохранить в:
| Опубликовано в: : | Mol Syndromol |
|---|---|
| Главные авторы: | , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
S. Karger AG
2017
|
| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5448451/ https://ncbi.nlm.nih.gov/pubmed/28588435 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000468192 |
| Метки: |
Добавить метку
Нет меток, Требуется 1-ая метка записи!
|