Phenotypic variation of TTC19- deficient mitochondrial complex III deficiency: a case report and literature review

D.A. Mordaunt; A. Jolley; Shanti Balasubramaniam; D.R. Thornburn; H.S. Mountford; A.G. Compton; J. Nicholl; N. Manton; D. Clark; D. Bratkovic; K. Friend; S, Yu

doi:10.1002/ajmg.a.36968

Phenotypic variation of TTC19- deficient mitochondrial complex III deficiency: a case report and literature review

D.A. Mordaunt, A. Jolley, Shanti Balasubramaniam, D.R. Thornburn, H.S. Mountford, A.G. Compton, J. Nicholl, N. Manton, D. Clark, D. Bratkovic, K. Friend, S, Yu

Research output: Contribution to journal › Article › peer-review

25 Citations (Scopus)

Original language	English
Pages (from-to)	1330–1336
Journal	American Journal of Medical Genetics Part A
Volume	167
Issue number	6
DOIs	https://doi.org/10.1002/ajmg.a.36968
Publication status	Published - 2015

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10.1002/ajmg.a.36968

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Mordaunt, D. A., Jolley, A., Balasubramaniam, S., Thornburn, D. R., Mountford, H. S., Compton, A. G., Nicholl, J., Manton, N., Clark, D., Bratkovic, D., Friend, K., & Yu, S. (2015). Phenotypic variation of TTC19- deficient mitochondrial complex III deficiency: a case report and literature review. American Journal of Medical Genetics Part A, 167(6), 1330–1336. https://doi.org/10.1002/ajmg.a.36968

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Mordaunt, DA, Jolley, A, Balasubramaniam, S, Thornburn, DR, Mountford, HS, Compton, AG, Nicholl, J, Manton, N, Clark, D, Bratkovic, D, Friend, K & Yu, S 2015, 'Phenotypic variation of TTC19- deficient mitochondrial complex III deficiency: a case report and literature review', American Journal of Medical Genetics Part A, vol. 167, no. 6, pp. 1330–1336. https://doi.org/10.1002/ajmg.a.36968

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AU - Mordaunt, D.A.

AU - Jolley, A.

AU - Balasubramaniam, Shanti

AU - Thornburn, D.R.

AU - Mountford, H.S.

AU - Compton, A.G.

AU - Nicholl, J.

AU - Manton, N.

AU - Clark, D.

AU - Bratkovic, D.

AU - Friend, K.

AU - Yu, S,

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JO - American Journal of Medical Genetics Part A

JF - American Journal of Medical Genetics Part A

SN - 0148-7299

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ER -