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

doi:10.1016/j.ejmg.2018.06.009

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

^*Corresponding author for this work

Research output: Contribution to journal › Article (Academic Journal) › peer-review

16 Citations (Scopus)

Original language	English
Pages (from-to)	97-102
Number of pages	6
Journal	European Journal of Medical Genetics
Volume	62
Issue number	2
DOIs	https://doi.org/10.1016/j.ejmg.2018.06.009
Publication status	Published - Feb 2019

Keywords

Ataxia
Infantile-onset encephalopathy
UBA5
Whole gene deletion

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Low, K. J., Baptista, J., Babiker, M., Caswell, R., King, C., Ellard, S., & Scurr, I. (2019). Hemizygous UBA5 missense mutation unmasks recessive disorder in a patient with infantile-onset encephalopathy, acquired microcephaly, small cerebellum, movement disorder and severe neurodevelopmental delay. European Journal of Medical Genetics, 62(2), 97-102. https://doi.org/10.1016/j.ejmg.2018.06.009

@article{37eaae9826ee4023be1d5b17c51a17be,

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

keywords = "Ataxia, Infantile-onset encephalopathy, UBA5, Whole gene deletion",

author = "Low, \{Karen J.\} and J. Baptista and M. Babiker and R. Caswell and C. King and S. Ellard and I. Scurr",

year = "2019",

month = feb,

doi = "10.1016/j.ejmg.2018.06.009",

language = "English",

volume = "62",

pages = "97--102",

journal = "European Journal of Medical Genetics",

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Low, KJ, Baptista, J, Babiker, M, Caswell, R, King, C, Ellard, S & Scurr, I 2019, 'Hemizygous UBA5 missense mutation unmasks recessive disorder in a patient with infantile-onset encephalopathy, acquired microcephaly, small cerebellum, movement disorder and severe neurodevelopmental delay', European Journal of Medical Genetics, vol. 62, no. 2, pp. 97-102. https://doi.org/10.1016/j.ejmg.2018.06.009

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. et al.
In: European Journal of Medical Genetics, Vol. 62, No. 2, 02.2019, p. 97-102.

Research output: Contribution to journal › Article (Academic Journal) › peer-review

TY - JOUR

T1 - Hemizygous UBA5 missense mutation unmasks recessive disorder in a patient with infantile-onset encephalopathy, acquired microcephaly, small cerebellum, movement disorder and severe neurodevelopmental delay

AU - Low, Karen J.

AU - Baptista, J.

AU - Babiker, M.

AU - Caswell, R.

AU - King, C.

AU - Ellard, S.

AU - Scurr, I.

PY - 2019/2

Y1 - 2019/2

KW - Ataxia

KW - Infantile-onset encephalopathy

KW - UBA5

KW - Whole gene deletion

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U2 - 10.1016/j.ejmg.2018.06.009

DO - 10.1016/j.ejmg.2018.06.009

M3 - Article (Academic Journal)

C2 - 29902590

AN - SCOPUS:85048566633

SN - 1769-7212

VL - 62

SP - 97

EP - 102

JO - European Journal of Medical Genetics

JF - European Journal of Medical Genetics

IS - 2

ER -

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

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