O17: Exploring MED27 gene pathogenicity in a neurodevelopmental disorder with cerebellar atrophy
Saved in:
| Main Authors: | Nuermila Yiliyaer, Xiaocheng Li, Tianyu Guo, Haiying Zhou, Nuo Chen, Linyan Meng, Yong Lei, Shen Gu |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2025-01-01
|
| Series: | Genetics in Medicine Open |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2949774425001323 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Similar Items
-
Identifying compound heterozygous variants in the EEFSEC gene linked to progressive cerebellar atrophy
by: Zhen Liu, et al.
Published: (2025-07-01) -
Neurodevelopmental and mental disorders in children with type I and presymptomatic spinal muscular atrophy
by: Bianca Buchignani, et al.
Published: (2025-07-01) -
A novel mutation in the KLHL17 gene is associated with neurodevelopmental disorders
by: Meng Ao, et al.
Published: (2025-09-01) -
Anti-Ma-2 associated encephalitis presenting as slowly progressive dementia and cerebellar atrophy
by: Somdattaa Ray, et al.
Published: (2025-01-01) -
Epileptic Encephalopathy and Cerebellar Atrophy Resulting from Compound Heterozygous CACNA2D2 Variants
by: Kameryn M. Butler, et al.
Published: (2018-01-01)