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

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

Elongation factor Tu guanosine-5’-triphosphate (GTP) binding domain containing 2 (<i>EFTUD2</i>) 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 path...

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Bibliographic Details
Main Authors: So Young Kim, Da-hye Lee, Jin Hee Han, Byung Yoon Choi
Format: Article
Language:English
Published: MDPI AG 2020-05-01
Series:Diagnostics
Subjects:
<i>EFTUD2</i>
mandibulofacial dysostosis
exome sequencing
splicing
Online Access:https://www.mdpi.com/2075-4418/10/5/296

Internet

https://www.mdpi.com/2075-4418/10/5/296

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