KohlschutterTonz Syndrome: Mutations in ROGDI and Evidence of Genetic Heterogeneity

A. Tucci; E. Kara; A. Schossig; N.I. Wolf; V. Plagnol; K. Fawcett; C. Paisan-Ruiz; M. Moore; D. Hernandez; S. Musumeci; M. Tennison; R. Hennekam; S. Palmeri; A. Malandrini; S. Raskin; D. Donnai; C. Hennig; A. Tzschach; R. Hordijk; T. Bast; K. Wimmer; C.N. Lo; S. Shorvon; H. Mefford; E.E. Eichler; R. Hall; I. Hayes; J. Hardy; A. Singleton; J. Zschocke; H. Houlden

doi:10.1002/humu.22241

KohlschutterTonz Syndrome: Mutations in ROGDI and Evidence of Genetic Heterogeneity

A. Tucci, E. Kara, A. Schossig, N.I. Wolf, V. Plagnol, K. Fawcett, C. Paisan-Ruiz, M. Moore, D. Hernandez, S. Musumeci, M. Tennison, R. Hennekam, S. Palmeri, A. Malandrini, S. Raskin, D. Donnai, C. Hennig, A. Tzschach, R. Hordijk, T. BastK. Wimmer, C.N. Lo, S. Shorvon, H. Mefford, E.E. Eichler, R. Hall, I. Hayes, J. Hardy, A. Singleton, J. Zschocke, H. Houlden

Pediatrics

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

Original language	Undefined/Unknown
Pages (from-to)	296-300
Journal	Human Mutation
Volume	34
Issue number	2
DOIs	https://doi.org/10.1002/humu.22241
Publication status	Published - 2013

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10.1002/humu.22241

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Tucci, A., Kara, E., Schossig, A., Wolf, N. I., Plagnol, V., Fawcett, K., Paisan-Ruiz, C., Moore, M., Hernandez, D., Musumeci, S., Tennison, M., Hennekam, R., Palmeri, S., Malandrini, A., Raskin, S., Donnai, D., Hennig, C., Tzschach, A., Hordijk, R., ... Houlden, H. (2013). KohlschutterTonz Syndrome: Mutations in ROGDI and Evidence of Genetic Heterogeneity. Human Mutation, 34(2), 296-300. https://doi.org/10.1002/humu.22241

Tucci, A. ; Kara, E. ; Schossig, A. ; Wolf, N.I. ; Plagnol, V. ; Fawcett, K. ; Paisan-Ruiz, C. ; Moore, M. ; Hernandez, D. ; Musumeci, S. ; Tennison, M. ; Hennekam, R. ; Palmeri, S. ; Malandrini, A. ; Raskin, S. ; Donnai, D. ; Hennig, C. ; Tzschach, A. ; Hordijk, R. ; Bast, T. ; Wimmer, K. ; Lo, C.N. ; Shorvon, S. ; Mefford, H. ; Eichler, E.E. ; Hall, R. ; Hayes, I. ; Hardy, J. ; Singleton, A. ; Zschocke, J. ; Houlden, H. / KohlschutterTonz Syndrome: Mutations in ROGDI and Evidence of Genetic Heterogeneity. In: Human Mutation. 2013 ; Vol. 34, No. 2. pp. 296-300.

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author = "A. Tucci and E. Kara and A. Schossig and N.I. Wolf and V. Plagnol and K. Fawcett and C. Paisan-Ruiz and M. Moore and D. Hernandez and S. Musumeci and M. Tennison and R. Hennekam and S. Palmeri and A. Malandrini and S. Raskin and D. Donnai and C. Hennig and A. Tzschach and R. Hordijk and T. Bast and K. Wimmer and C.N. Lo and S. Shorvon and H. Mefford and E.E. Eichler and R. Hall and I. Hayes and J. Hardy and A. Singleton and J. Zschocke and H. Houlden",

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Tucci, A, Kara, E, Schossig, A, Wolf, NI, Plagnol, V, Fawcett, K, Paisan-Ruiz, C, Moore, M, Hernandez, D, Musumeci, S, Tennison, M, Hennekam, R, Palmeri, S, Malandrini, A, Raskin, S, Donnai, D, Hennig, C, Tzschach, A, Hordijk, R, Bast, T, Wimmer, K, Lo, CN, Shorvon, S, Mefford, H, Eichler, EE, Hall, R, Hayes, I, Hardy, J, Singleton, A, Zschocke, J & Houlden, H 2013, 'KohlschutterTonz Syndrome: Mutations in ROGDI and Evidence of Genetic Heterogeneity', Human Mutation, vol. 34, no. 2, pp. 296-300. https://doi.org/10.1002/humu.22241

KohlschutterTonz Syndrome: Mutations in ROGDI and Evidence of Genetic Heterogeneity. / Tucci, A.; Kara, E.; Schossig, A.; Wolf, N.I.; Plagnol, V.; Fawcett, K.; Paisan-Ruiz, C.; Moore, M.; Hernandez, D.; Musumeci, S.; Tennison, M.; Hennekam, R.; Palmeri, S.; Malandrini, A.; Raskin, S.; Donnai, D.; Hennig, C.; Tzschach, A.; Hordijk, R.; Bast, T.; Wimmer, K.; Lo, C.N.; Shorvon, S.; Mefford, H.; Eichler, E.E.; Hall, R.; Hayes, I.; Hardy, J.; Singleton, A.; Zschocke, J.; Houlden, H.

In: Human Mutation, Vol. 34, No. 2, 2013, p. 296-300.

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

TY - JOUR

T1 - KohlschutterTonz Syndrome: Mutations in ROGDI and Evidence of Genetic Heterogeneity

AU - Tucci, A.

AU - Kara, E.

AU - Schossig, A.

AU - Wolf, N.I.

AU - Plagnol, V.

AU - Fawcett, K.

AU - Paisan-Ruiz, C.

AU - Moore, M.

AU - Hernandez, D.

AU - Musumeci, S.

AU - Tennison, M.

AU - Hennekam, R.

AU - Palmeri, S.

AU - Malandrini, A.

AU - Raskin, S.

AU - Donnai, D.

AU - Hennig, C.

AU - Tzschach, A.

AU - Hordijk, R.

AU - Bast, T.

AU - Wimmer, K.

AU - Lo, C.N.

AU - Shorvon, S.

AU - Mefford, H.

AU - Eichler, E.E.

AU - Hall, R.

AU - Hayes, I.

AU - Hardy, J.

AU - Singleton, A.

AU - Zschocke, J.

AU - Houlden, H.

PY - 2013

Y1 - 2013

U2 - 10.1002/humu.22241

DO - 10.1002/humu.22241

M3 - Article

C2 - 23086778

VL - 34

SP - 296

EP - 300

JO - Human Mutation

JF - Human Mutation

SN - 1059-7794

IS - 2

ER -