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...

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Detalles Bibliográficos
Autores principales: Imran Naseer, Muhammad, Abdulrahman Abdulkareem, Angham, Yousef Muthaffar, Osama, Chaudhary, Adeel G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Original Article
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

Internet

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

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