Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype

Ange-Line Bruel; Stefania Bigoni; Joanna Kennedy; Margo Whiteford; Chris Buxton; Giulia Parmeggiani; Matt Wherlock; Geoff Woodward; Mark Greenslade; Maggie Williams; Judith St-Onge; Alessandra Ferlini; Giampaolo Garani; Elisa Ballardini; Bregje W. van Bon; Rocio Acuna-Hidalgo; Axel Bohring; Jean-Francois Deleuze; Anne Boland; Vincent Meyer; Robert Olaso; Emmanuelle Ginglinger; Jean-Baptiste Riviere; Han G. Brunner; Alexander Hoischen; Ruth Newbury-Ecob; Laurence Faivre; Christel Thauvin-Robinet; Julien Thevenon; DDD Study

doi:10.1136/jmedgenet-2017-104748

Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype

Ange-Line Bruel^*, Stefania Bigoni, Joanna Kennedy, Margo Whiteford, Chris Buxton, Giulia Parmeggiani, Matt Wherlock, Geoff Woodward, Mark Greenslade, Maggie Williams, Judith St-Onge, Alessandra Ferlini, Giampaolo Garani, Elisa Ballardini, Bregje W. van Bon, Rocio Acuna-Hidalgo, Axel Bohring, Jean-Francois Deleuze, Anne Boland, Vincent MeyerRobert Olaso, Emmanuelle Ginglinger, Jean-Baptiste Riviere, Han G. Brunner, Alexander Hoischen, Ruth Newbury-Ecob, Laurence Faivre, Christel Thauvin-Robinet, Julien Thevenon^*, DDD Study

^*Corresponding author for this work

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

Original language	English
Pages (from-to)	830-835
Number of pages	6
Journal	Journal of Medical Genetics
Volume	54
Issue number	12
DOIs	https://doi.org/10.1136/jmedgenet-2017-104748
Publication status	Published - Dec 2017

Keywords

DOMINANT RETINITIS-PIGMENTOSA
BAINBRIDGE-ROPERS SYNDROME
PROTEIN
LIGASE
CANCER
ONSET

Access to Document

10.1136/jmedgenet-2017-104748

Cite this

Bruel, A-L., Bigoni, S., Kennedy, J., Whiteford, M., Buxton, C., Parmeggiani, G., Wherlock, M., Woodward, G., Greenslade, M., Williams, M., St-Onge, J., Ferlini, A., Garani, G., Ballardini, E., van Bon, B. W., Acuna-Hidalgo, R., Bohring, A., Deleuze, J-F., Boland, A., ... DDD Study (2017). Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype. Journal of Medical Genetics, 54(12), 830-835. https://doi.org/10.1136/jmedgenet-2017-104748

Bruel, Ange-Line ; Bigoni, Stefania ; Kennedy, Joanna ; Whiteford, Margo ; Buxton, Chris ; Parmeggiani, Giulia ; Wherlock, Matt ; Woodward, Geoff ; Greenslade, Mark ; Williams, Maggie ; St-Onge, Judith ; Ferlini, Alessandra ; Garani, Giampaolo ; Ballardini, Elisa ; van Bon, Bregje W. ; Acuna-Hidalgo, Rocio ; Bohring, Axel ; Deleuze, Jean-Francois ; Boland, Anne ; Meyer, Vincent ; Olaso, Robert ; Ginglinger, Emmanuelle ; Riviere, Jean-Baptiste ; Brunner, Han G. ; Hoischen, Alexander ; Newbury-Ecob, Ruth ; Faivre, Laurence ; Thauvin-Robinet, Christel ; Thevenon, Julien ; DDD Study. / Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype. In: Journal of Medical Genetics. 2017 ; Vol. 54, No. 12. pp. 830-835.

@article{3647acfc3d5a4bd4b3dae9d8b8d85ea8,

title = "Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype",

keywords = "DOMINANT RETINITIS-PIGMENTOSA, BAINBRIDGE-ROPERS SYNDROME, PROTEIN, LIGASE, CANCER, ONSET",

author = "Ange-Line Bruel and Stefania Bigoni and Joanna Kennedy and Margo Whiteford and Chris Buxton and Giulia Parmeggiani and Matt Wherlock and Geoff Woodward and Mark Greenslade and Maggie Williams and Judith St-Onge and Alessandra Ferlini and Giampaolo Garani and Elisa Ballardini and {van Bon}, {Bregje W.} and Rocio Acuna-Hidalgo and Axel Bohring and Jean-Francois Deleuze and Anne Boland and Vincent Meyer and Robert Olaso and Emmanuelle Ginglinger and Jean-Baptiste Riviere and Brunner, {Han G.} and Alexander Hoischen and Ruth Newbury-Ecob and Laurence Faivre and Christel Thauvin-Robinet and Julien Thevenon and {DDD Study}",

year = "2017",

month = dec,

doi = "10.1136/jmedgenet-2017-104748",

language = "English",

volume = "54",

pages = "830--835",

journal = "Journal of Medical Genetics",

issn = "0022-2593",

publisher = "BMJ Publishing Group",

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}

Bruel, A-L, Bigoni, S, Kennedy, J, Whiteford, M, Buxton, C, Parmeggiani, G, Wherlock, M, Woodward, G, Greenslade, M, Williams, M, St-Onge, J, Ferlini, A, Garani, G, Ballardini, E, van Bon, BW, Acuna-Hidalgo, R, Bohring, A, Deleuze, J-F, Boland, A, Meyer, V, Olaso, R, Ginglinger, E, Riviere, J-B, Brunner, HG, Hoischen, A, Newbury-Ecob, R, Faivre, L, Thauvin-Robinet, C, Thevenon, J & DDD Study 2017, 'Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype', Journal of Medical Genetics, vol. 54, no. 12, pp. 830-835. https://doi.org/10.1136/jmedgenet-2017-104748

Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype. / Bruel, Ange-Line; Bigoni, Stefania; Kennedy, Joanna; Whiteford, Margo; Buxton, Chris; Parmeggiani, Giulia; Wherlock, Matt; Woodward, Geoff; Greenslade, Mark; Williams, Maggie; St-Onge, Judith; Ferlini, Alessandra; Garani, Giampaolo; Ballardini, Elisa; van Bon, Bregje W.; Acuna-Hidalgo, Rocio; Bohring, Axel; Deleuze, Jean-Francois; Boland, Anne; Meyer, Vincent; Olaso, Robert; Ginglinger, Emmanuelle; Riviere, Jean-Baptiste; Brunner, Han G.; Hoischen, Alexander; Newbury-Ecob, Ruth; Faivre, Laurence; Thauvin-Robinet, Christel; Thevenon, Julien; DDD Study.

In: Journal of Medical Genetics, Vol. 54, No. 12, 12.2017, p. 830-835.

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

TY - JOUR

T1 - Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype

AU - Bruel, Ange-Line

AU - Bigoni, Stefania

AU - Kennedy, Joanna

AU - Whiteford, Margo

AU - Buxton, Chris

AU - Parmeggiani, Giulia

AU - Wherlock, Matt

AU - Woodward, Geoff

AU - Greenslade, Mark

AU - Williams, Maggie

AU - St-Onge, Judith

AU - Ferlini, Alessandra

AU - Garani, Giampaolo

AU - Ballardini, Elisa

AU - van Bon, Bregje W.

AU - Acuna-Hidalgo, Rocio

AU - Bohring, Axel

AU - Deleuze, Jean-Francois

AU - Boland, Anne

AU - Meyer, Vincent

AU - Olaso, Robert

AU - Ginglinger, Emmanuelle

AU - Riviere, Jean-Baptiste

AU - Brunner, Han G.

AU - Hoischen, Alexander

AU - Newbury-Ecob, Ruth

AU - Faivre, Laurence

AU - Thauvin-Robinet, Christel

AU - Thevenon, Julien

AU - DDD Study

PY - 2017/12

Y1 - 2017/12

KW - DOMINANT RETINITIS-PIGMENTOSA

KW - BAINBRIDGE-ROPERS SYNDROME

KW - PROTEIN

KW - LIGASE

KW - CANCER

KW - ONSET

U2 - 10.1136/jmedgenet-2017-104748

DO - 10.1136/jmedgenet-2017-104748

M3 - Article

VL - 54

SP - 830

EP - 835

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

SN - 0022-2593

IS - 12

ER -