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...

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Detalhes bibliográficos
Publicado no:F1000Res
Main Authors: Narayanan, Mohan, Ramsey, Keri, Grebe, Theresa, Schrauwen, Isabelle, Szelinger, Szabolcs, Huentelman, Matthew, Craig, David, Narayanan, Vinodh
Formato: Artigo
Idioma:Inglês
Publicado em: F1000Research 2015
Assuntos:
Case Report
Acesso em linha: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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