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Exome sequencing reveled a compound heterozygous mutations in RTTN gene causing developmental delay and primary microcephaly
RTTN (Rotatin) (OMIM 614833) is a large centrosomal protein coding gene. RTTN mutations are responsible for syndromic forms of malformation of brain development, leading to polymicrogyria, microcephaly, primordial dwarfism, seizure along with many other malformations. In this study we have identifie...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Elsevier
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8116967/ https://www.ncbi.nlm.nih.gov/pubmed/34012324 http://dx.doi.org/10.1016/j.sjbs.2021.02.014 |