Recent Developments in Neurofibromatoses and RASopathies: Management, Diagnosis and Current and Future Therapeutic Avenues

Katherine A. Rauen; Susan M. Huson; Emma Burkitt-Wright; D. Gareth Evans; Said Farschtschi; Rosalie E. Ferner; David H. Gutmann; C. Oliver Hanemann; Bronwyn Kerr; Eric Legius; Luis F. Parada; Michael Patton; Juha Peltonen; Nancy Ratner; Vincent M. Riccardi; der Vaart T van; Miikka Vikkula; DH Viskochi; Martin Zenker; Meena Upadhyaya

doi:10.1002/ajmg.a.36793

Recent Developments in Neurofibromatoses and RASopathies: Management, Diagnosis and Current and Future Therapeutic Avenues

Katherine A. Rauen, Susan M. Huson, Emma Burkitt-Wright, D. Gareth Evans, Said Farschtschi, Rosalie E. Ferner, David H. Gutmann, C. Oliver Hanemann, Bronwyn Kerr, Eric Legius, Luis F. Parada, Michael Patton, Juha Peltonen, Nancy Ratner, Vincent M. Riccardi, der Vaart T van, Miikka Vikkula, DH Viskochi, Martin Zenker, Meena Upadhyaya^*

^*Corresponding author for this work

Peninsula Medical School

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

Original language	English
Pages (from-to)	1-10
Number of pages	0
Journal	AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume	167
Issue number	1
DOIs	https://doi.org/10.1002/ajmg.a.36793
Publication status	Published - 2015

Keywords

capillary malformation-AV malformation syndrome
cardio-facio-cutaneous syndrome
Costello syndrome
neurofibromatosis
Noonan syndrome
Legius syndrome
Ras/MAPK
signal transduction pathway
RASopathy
therapy

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1002/ajmg.a.36793

Cite this

Rauen, K. A., Huson, S. M., Burkitt-Wright, E., Evans, D. G., Farschtschi, S., Ferner, R. E., Gutmann, D. H., Hanemann, C. O., Kerr, B., Legius, E., Parada, L. F., Patton, M., Peltonen, J., Ratner, N., Riccardi, V. M., van, D. V. T., Vikkula, M., Viskochi, DH., Zenker, M., & Upadhyaya, M. (2015). Recent Developments in Neurofibromatoses and RASopathies: Management, Diagnosis and Current and Future Therapeutic Avenues. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 167(1), 1-10. https://doi.org/10.1002/ajmg.a.36793

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keywords = "capillary malformation-AV malformation syndrome, cardio-facio-cutaneous syndrome, Costello syndrome, neurofibromatosis, Noonan syndrome, Legius syndrome, Ras/MAPK, signal transduction pathway, RASopathy, therapy",

author = "Rauen, {Katherine A.} and Huson, {Susan M.} and Emma Burkitt-Wright and Evans, {D. Gareth} and Said Farschtschi and Ferner, {Rosalie E.} and Gutmann, {David H.} and Hanemann, {C. Oliver} and Bronwyn Kerr and Eric Legius and Parada, {Luis F.} and Michael Patton and Juha Peltonen and Nancy Ratner and Riccardi, {Vincent M.} and van, {der Vaart T} and Miikka Vikkula and DH Viskochi and Martin Zenker and Meena Upadhyaya",

year = "2015",

doi = "10.1002/ajmg.a.36793",

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Rauen, KA, Huson, SM, Burkitt-Wright, E, Evans, DG, Farschtschi, S, Ferner, RE, Gutmann, DH, Hanemann, CO, Kerr, B, Legius, E, Parada, LF, Patton, M, Peltonen, J, Ratner, N, Riccardi, VM, van, DVT, Vikkula, M, Viskochi, DH, Zenker, M & Upadhyaya, M 2015, 'Recent Developments in Neurofibromatoses and RASopathies: Management, Diagnosis and Current and Future Therapeutic Avenues', AMERICAN JOURNAL OF MEDICAL GENETICS PART A, vol. 167, no. 1, pp. 1-10. https://doi.org/10.1002/ajmg.a.36793

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T1 - Recent Developments in Neurofibromatoses and RASopathies: Management, Diagnosis and Current and Future Therapeutic Avenues

AU - Rauen, Katherine A.

AU - Huson, Susan M.

AU - Burkitt-Wright, Emma

AU - Evans, D. Gareth

AU - Farschtschi, Said

AU - Ferner, Rosalie E.

AU - Gutmann, David H.

AU - Hanemann, C. Oliver

AU - Kerr, Bronwyn

AU - Legius, Eric

AU - Parada, Luis F.

AU - Patton, Michael

AU - Peltonen, Juha

AU - Ratner, Nancy

AU - Riccardi, Vincent M.

AU - van, der Vaart T

AU - Vikkula, Miikka

AU - Viskochi, DH

AU - Zenker, Martin

AU - Upadhyaya, Meena

PY - 2015

Y1 - 2015

KW - capillary malformation-AV malformation syndrome

KW - cardio-facio-cutaneous syndrome

KW - Costello syndrome

KW - neurofibromatosis

KW - Noonan syndrome

KW - Legius syndrome

KW - Ras/MAPK

KW - signal transduction pathway

KW - RASopathy

KW - therapy

U2 - 10.1002/ajmg.a.36793

DO - 10.1002/ajmg.a.36793

M3 - Article

SN - 1552-4825

VL - 167

SP - 1

EP - 10

JO - AMERICAN JOURNAL OF MEDICAL GENETICS PART A

JF - AMERICAN JOURNAL OF MEDICAL GENETICS PART A

IS - 1

ER -