Hemizygous UBA5 missense mutation unmasks recessive...

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European Journal of Medical Genetics 2018 / 6

Hemizygous UBA5 missense mutation unmasks recessive disorder in a patient with infantile-onset encephalopathy, acquired microcephaly, small cerebellum, movement disorder and severe neurodevelopmental delay

Low, Karen J., Baptista, J., Babiker, M., Caswell, R., King, C., Ellard, S., Scurr, I.
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Language:
english
Journal:
European Journal of Medical Genetics
DOI:
10.1016/j.ejmg.2018.06.009
Date:
June, 2018
File:
PDF, 1.65 MB
english, 2018
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