Identification of a novel frameshift variation in ANKRD11: a case report of KBG syndrome
BackgroundKBG syndrome (KBGS, OMIM: 148050) is a rare genetic disorder characterized by macrodontia, short stature, skeletal abnormalities, and neurological manifestations. The objective of this study is to investigate a case of KBG syndrome caused by a novel frameshift mutation in ANKRD11.Methods a...
| Những tác giả chính: | , , , , , |
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| Định dạng: | Bài viết |
| Ngôn ngữ: | English |
| Được phát hành: |
Frontiers Media S.A.
2025-01-01
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| Loạt: | Frontiers in Genetics |
| Những chủ đề: | |
| Truy cập trực tuyến: | https://www.frontiersin.org/articles/10.3389/fgene.2024.1439905/full |