Novel Splice Site Pathogenic Variant of EFTUD2 Is Associated with Mandibulofacial Dysostosis with Microcephaly and Extracranial Symptoms in Korea

Elongation factor Tu guanosine-5’-triphosphate (GTP) binding domain containing 2 (EFTUD2) encodes a major component of the spliceosomal GTPase and, if mutated, causes mandibulofacial dysostosis with microcephaly (MFDM; MIM#610536). Despite the increasing number of potentially pathogenic variants rep...

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Detalles Bibliográficos
Autores principales: Kim, So Young, Lee, Da-hye, Han, Jin Hee, Choi, Byung Yoon
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7277841/
https://www.ncbi.nlm.nih.gov/pubmed/32408545
http://dx.doi.org/10.3390/diagnostics10050296

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7277841/
https://www.ncbi.nlm.nih.gov/pubmed/32408545
http://dx.doi.org/10.3390/diagnostics10050296

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