Identification of a novel NF1 deletion variant in a Taiwanese boy with neurofibromatosis type 1-associated Moyamoya syndrome
Saved in:
| Main Authors: | Yung-Yu Yang, Chia-Hsiang Yu, Chih-Fen Hu, Chia-Cheng Sung, Shyi-Jou Chen |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2023-03-01
|
| Series: | Pediatrics and Neonatology |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1875957222002285 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Similar Items
-
Moyamoya syndrome associated with plexiform neurofibromatosis type 1 presenting with hemichorea
by: S. B. Punith, et al.
Published: (2024-12-01) -
A novel synonymous variant in the NF1 gene disrupting splicing contributes to neurofibromatosis pathogenesis
by: Tao Lin, et al.
Published: (2025-05-01) -
Genotype-phenotype correlation in neurofibromatosis type-1: NF1 whole gene deletions lead to high tumor-burden and increased tumor-growth.
by: Lennart Well, et al.
Published: (2021-05-01) -
Neurofibromatosis tipo 1 (NF1) o enfermedad de Von Recklinghausen
by: Sergio A. Arbeláez Eslait, et al.
Published: (2020-08-01) -
Neonatal seizure caused by periventricular leukomalacia resulting from maternal protein S deficiency and treated with aspirin
by: Chun-Hao Chu, et al.
Published: (2022-01-01)