Novel loss-of-function variants in WDR26 cause Skraban-Deardorff syndrome in two Chinese patients
IntroductionMutations in the protein WD repeat structural domain 26 (WDR26, MIM 617424) have been identified as the cause of autosomal dominant Skraban-Deardorff syndrome, a rare genetic disorder characterized by intellectual disability (ID), developmental delay (DD), hypotonia, epilepsy, infant fee...
Збережено в:
| Автори: | , , , , , , , , , , |
|---|---|
| Формат: | Artigo |
| Мова: | Inglês |
| Опубліковано: |
Frontiers Media S.A.
2024-09-01
|
| Серія: | Frontiers in Pediatrics |
| Предмети: | |
| Онлайн доступ: | https://www.frontiersin.org/articles/10.3389/fped.2024.1429586/full |
| Теги: |
Немає тегів, Будьте першим, хто поставить тег для цього запису!
|