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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...
Tallennettuna:
| Julkaisussa: | F1000Res |
|---|---|
| Päätekijät: | , , , , , , , |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
F1000Research
2015
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| Aiheet: | |
| Linkit: | 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 |
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