Hemizygous UBA5 missense mutation unmasks recessive disorder in a patient with infantile-onset encephalopathy, acquired microcephaly, small cerebellum, movement disorder and severe neurodevelopmental delay
Karen J. Low*, J. Baptista, M. Babiker, R. Caswell, C. King, S. Ellard, I. Scurr
Research output: Contribution to journal › Article › peer-review
8Downloads
(Pure)
Fingerprint
Dive into the research topics of 'Hemizygous UBA5 missense mutation unmasks recessive disorder in a patient with infantile-onset encephalopathy, acquired microcephaly, small cerebellum, movement disorder and severe neurodevelopmental delay'. Together they form a unique fingerprint.