Novel EPG5 Mutation Associated with Vici Syndrome Gene
Introduction. Vici syndrome (also known as immunodeficiency with cleft lip/palate, cataract, and hypopigmentation and absent corpus callosum) is considered as a progressive neurodevelopmental multisystem disorder. Till date, only 80 cases, including our patient, with this syndrome have been reported...
Saved in:
| Main Authors: | Frouzandeh Mahjoubi, Samira Shabani, Sogand Khakbazpour, Aylar Khaligh Akhlaghi |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2022-01-01
|
| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2022/5452944 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Similar Items
-
Veni, bibi, vici
by: Amélie Chabrier
Published: (2017-07-01) -
Estudiantes EPG Decimocuarta Promoción
by: Perspectiva Geográfica
Published: (2011-04-01) -
Estudiantes EPG Decimocuarta Cohorte
by: Perspectiva Geográfica
Published: (2011-04-01) -
An 18-month-old girl with Vici syndrome: A case report study
by: Parsa Forouhar, et al.
Published: (2025-06-01) -
A dynamic co-expression approach reveals Gins2 as a potential upstream modulator of HNSCC metastasis
by: Nasibeh Khayer, et al.
Published: (2025-01-01)