Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.

Koczkowska M, Callens T, Chen Y, Gomes A, Hicks AD, Sharp A, Johns E, Uhas KA, Armstrong L, Bosanko KA, Babovic-Vuksanovic D, Baker L, Basel DG, Bengala M, Bennett JT, Chambers C, Clarkson LK, Clementi M, Cortés FM, Cunningham M, D'Agostino MD, Delatycki MB, Digilio MC, Dosa L, Esposito S, Fox S, Freckmann ML, Fauth C, Giugliano T, Giustini S, Goetsch A, Goldberg Y, Greenwood RS, Griffis C, Gripp KW, Gupta P, Haan E, Hachen RK, Haygarth TL, Hernández-Chico C, Hodge K, Hopkin RJ, Hudgins L, Janssens S, Keller K, Kelly-Mancuso G, Kochhar A, Korf BR, Lewis AM, Liebelt J, Lichty A, Listernick RH, Lyons MJ, Maystadt I, Martinez Ojeda M, McDougall C, McGregor LK, Melis D, Mendelsohn N, Nowaczyk MJM, Ortenberg J, Panzer K, Pappas JG, Pierpont ME, Piluso G, Pinna V, Pivnick EK, Pond DA, Powell CM, Rogers C, Ruhrman Shahar N, Rutledge SL, Saletti V, Sandaradura SA, Santoro C, Schatz UA, Schreiber A, Scott DA, Sellars EA, Sheffer R, Siqveland E, Slopis JM, Smith R, Spalice A, Stockton DW, Streff H, Theos A, Tomlinson GE, Tran G, Trapane PL, Trevisson E, Ullrich NJ, Van den Ende J, Schrier Vergano SA, Wallace SE, Wangler MF, Weaver DD, Yohay KH, Zackai E, Zonana J, Zurcher V, Claes KBM, Eoli M, Martin Y, Wimmer K, De Luca A, Legius E, Messiaen LM

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DOI: 10.1002/humu.23929
Published: 2020 Jan
Container: Human mutation
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.1002/humu.23929,
  title = {Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.},
  author = {Koczkowska M and Callens T and Chen Y and Gomes A and Hicks AD and Sharp A and Johns E and Uhas KA and Armstrong L and Bosanko KA and Babovic-Vuksanovic D and Baker L and Basel DG and Bengala M and Bennett JT and Chambers C and Clarkson LK and Clementi M and Cortés FM and Cunningham M and D'Agostino MD and Delatycki MB and Digilio MC and Dosa L and Esposito S and Fox S and Freckmann ML and Fauth C and Giugliano T and Giustini S and Goetsch A and Goldberg Y and Greenwood RS and Griffis C and Gripp KW and Gupta P and Haan E and Hachen RK and Haygarth TL and Hernández-Chico C and Hodge K and Hopkin RJ and Hudgins L and Janssens S and Keller K and Kelly-Mancuso G and Kochhar A and Korf BR and Lewis AM and Liebelt J and Lichty A and Listernick RH and Lyons MJ and Maystadt I and Martinez Ojeda M and McDougall C and McGregor LK and Melis D and Mendelsohn N and Nowaczyk MJM and Ortenberg J and Panzer K and Pappas JG and Pierpont ME and Piluso G and Pinna V and Pivnick EK and Pond DA and Powell CM and Rogers C and Ruhrman Shahar N and Rutledge SL and Saletti V and Sandaradura SA and Santoro C and Schatz UA and Schreiber A and Scott DA and Sellars EA and Sheffer R and Siqveland E and Slopis JM and Smith R and Spalice A and Stockton DW and Streff H and Theos A and Tomlinson GE and Tran G and Trapane PL and Trevisson E and Ullrich NJ and Van den Ende J and Schrier Vergano SA and Wallace SE and Wangler MF and Weaver DD and Yohay KH and Zackai E and Zonana J and Zurcher V and Claes KBM and Eoli M and Martin Y and Wimmer K and De Luca A and Legius E and Messiaen LM},
  year = {2020},
  journal = {Human mutation},
  doi = {10.1002/humu.23929},
  url = {https://doi.org/10.1002/humu.23929}
}

RIS

TY  - JOUR
TI  - Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.
AU  - Koczkowska M
AU  - Callens T
AU  - Chen Y
AU  - Gomes A
AU  - Hicks AD
AU  - Sharp A
AU  - Johns E
AU  - Uhas KA
AU  - Armstrong L
AU  - Bosanko KA
AU  - Babovic-Vuksanovic D
AU  - Baker L
AU  - Basel DG
AU  - Bengala M
AU  - Bennett JT
AU  - Chambers C
AU  - Clarkson LK
AU  - Clementi M
AU  - Cortés FM
AU  - Cunningham M
AU  - D'Agostino MD
AU  - Delatycki MB
AU  - Digilio MC
AU  - Dosa L
AU  - Esposito S
AU  - Fox S
AU  - Freckmann ML
AU  - Fauth C
AU  - Giugliano T
AU  - Giustini S
AU  - Goetsch A
AU  - Goldberg Y
AU  - Greenwood RS
AU  - Griffis C
AU  - Gripp KW
AU  - Gupta P
AU  - Haan E
AU  - Hachen RK
AU  - Haygarth TL
AU  - Hernández-Chico C
AU  - Hodge K
AU  - Hopkin RJ
AU  - Hudgins L
AU  - Janssens S
AU  - Keller K
AU  - Kelly-Mancuso G
AU  - Kochhar A
AU  - Korf BR
AU  - Lewis AM
AU  - Liebelt J
AU  - Lichty A
AU  - Listernick RH
AU  - Lyons MJ
AU  - Maystadt I
AU  - Martinez Ojeda M
AU  - McDougall C
AU  - McGregor LK
AU  - Melis D
AU  - Mendelsohn N
AU  - Nowaczyk MJM
AU  - Ortenberg J
AU  - Panzer K
AU  - Pappas JG
AU  - Pierpont ME
AU  - Piluso G
AU  - Pinna V
AU  - Pivnick EK
AU  - Pond DA
AU  - Powell CM
AU  - Rogers C
AU  - Ruhrman Shahar N
AU  - Rutledge SL
AU  - Saletti V
AU  - Sandaradura SA
AU  - Santoro C
AU  - Schatz UA
AU  - Schreiber A
AU  - Scott DA
AU  - Sellars EA
AU  - Sheffer R
AU  - Siqveland E
AU  - Slopis JM
AU  - Smith R
AU  - Spalice A
AU  - Stockton DW
AU  - Streff H
AU  - Theos A
AU  - Tomlinson GE
AU  - Tran G
AU  - Trapane PL
AU  - Trevisson E
AU  - Ullrich NJ
AU  - Van den Ende J
AU  - Schrier Vergano SA
AU  - Wallace SE
AU  - Wangler MF
AU  - Weaver DD
AU  - Yohay KH
AU  - Zackai E
AU  - Zonana J
AU  - Zurcher V
AU  - Claes KBM
AU  - Eoli M
AU  - Martin Y
AU  - Wimmer K
AU  - De Luca A
AU  - Legius E
AU  - Messiaen LM
PY  - 2020
JO  - Human mutation
DO  - 10.1002/humu.23929
UR  - https://doi.org/10.1002/humu.23929
ER  -

APA

M, K., T, C., Y, C., A, G., AD, H., A, S., E, J., KA, U., L, A., KA, B., D, B., L, B., DG, B., M, B., JT, B., C, C., LK, C., M, C., FM, C., M, C., MD, D., MB, D., MC, D., L, D., S, E., S, F., ML, F., C, F., T, G., S, G., A, G., Y, G., RS, G., C, G., KW, G., P, G., E, H., RK, H., TL, H., C, H., K, H., RJ, H., L, H., S, J., K, K., G, K., A, K., BR, K., AM, L., J, L., A, L., RH, L., MJ, L., I, M., M, M. O., C, M., LK, M., D, M., N, M., MJM, N., J, O., K, P., JG, P., ME, P., G, P., V, P., EK, P., DA, P., CM, P., C, R., N, R. S., SL, R., V, S., SA, S., C, S., UA, S., A, S., DA, S., EA, S., R, S., E, S., JM, S., R, S., A, S., DW, S., H, S., A, T., GE, T., G, T., PL, T., E, T., NJ, U., J, V. D. E., SA, S. V., SE, W., MF, W., DD, W., KH, Y., E, Z., J, Z., V, Z., KBM, C., M, E., Y, M., K, W., A, D. L., E, L., & LM, M. (2020). Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.. Human mutation. https://doi.org/10.1002/humu.23929

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pubmed · retrieved 2026-09-26T09:34:37.408Z