Nalaganje...
Novel compound heterozygous mutations in WDR62 gene leading to developmental delay and Primary Microcephaly in Saudi Family
OBJECTIVE: Primary microcephaly (MCPH) is a rare autosomal recessive disorder characterized by impaired congenital reduction of brain size along with head circumference and intellectual disability. MCPH is a heterogeneous disorder and more than twenty four genes associated with this disease have bee...
Shranjeno v:
| izdano v: | Pak J Med Sci |
|---|---|
| Main Authors: | , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Professional Medical Publications
2019
|
| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6572970/ https://ncbi.nlm.nih.gov/pubmed/31258591 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.12669/pjms.35.3.36 |
| Oznake: |
Označite
Brez oznak, prvi označite!
|