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Novel truncating variant in KMT2E associated with cerebellar hypoplasia and velopharyngeal dysfunction

Authors :
Nicolas J. Abreu
Amy E. Siemon
Adriane L. Baylis
Richard E. Kirschner
Ruthann B. Pfau
Mai‐Lan Ho
Scott E. Hickey
Kristen V. Truxal
Source :
Clinical Case Reports. 10
Publication Year :
2022
Publisher :
Wiley, 2022.

Subjects

Subjects :
General Medicine

Details

ISSN :
20500904
Volume :
10
Database :
OpenAIRE
Journal :
Clinical Case Reports
Accession number :
edsair.doi...........e97ab96c9d1d6bba617960cae982d0ac
Full Text :
https://doi.org/10.1002/ccr3.5277