Učitavanje...
Case Report: Compound heterozygous nonsense mutations in TRMT10A are associated with microcephaly, delayed development, and periventricular white matter hyperintensities
Microcephaly is a fairly common feature observed in children with delayed development, defined as head circumference less than 2 standard deviations below the mean for age and gender. It may be the result of an acquired insult to the brain, such prenatal or perinatal brain injury (congenital infecti...
Spremljeno u:
| Izdano u: | F1000Res |
|---|---|
| Glavni autori: | , , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
F1000Research
2015
|
| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4617320/ https://ncbi.nlm.nih.gov/pubmed/26535115 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.12688/f1000research.7106.1 |
| Oznake: |
Dodaj oznaku
Bez oznaka, Budi prvi tko označuje ovaj zapis!
|