Nalaganje...
A novel RAB39B mutation and concurrent de novo NF1 mutation in a boy with neurofibromatosis type 1, intellectual disability, and autism: a case report
Abstract Background Mutations in RAB39B at Xq28 causes a rare form of X-linked intellectual disability (ID) and Parkinson’s disease. Neurofibromatosis type 1 (NF1) is caused by heterozygous mutations in NF1 occurring de novo in about 50% of cases, usually due to paternal gonadal mutations. This case...
Shranjeno v:
Main Authors: | , , , , , , , , , |
---|---|
Format: | Artigo |
Jezik: | Inglês |
Izdano: |
BMC
2020-09-01
|
Serija: | BMC Neurology |
Teme: | |
Online dostop: | http://link.springer.com/article/10.1186/s12883-020-01911-0 |
Oznake: |
Označite
Brez oznak, prvi označite!
|