Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition.

Alma Kuechler; Johanna Christina Czeschik; Elisabeth Graf; Ute Grasshoff; Ulrike Hüffmeier; Tiffany Busa; Stefanie Beck-Woedl; Laurence Faivre; Jean-Baptiste Rivière; Ingrid Bader; Johannes Koch; André Reis; Ute Hehr; Olaf Rittinger; Wolfgang Sperl; Tobias B Haack; Thomas Wieland; Hartmut Engels; Holger Prokisch; Tim M Strom; Hermann-Josef Lüdecke; Dagmar Wieczorek

doi:10.1038/ejhg.2016.165

Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition.

Alma Kuechler
, Johanna Christina Czeschik
, Elisabeth Graf
, Ute Grasshoff
, Ulrike Hüffmeier
, Tiffany Busa
, Stefanie Beck-Woedl
, Laurence Faivre
, Jean-Baptiste Rivière
, Ingrid Bader (Co-author)
, Johannes Koch (Co-author)
, André Reis
, Ute Hehr
, Olaf Rittinger
, Wolfgang Sperl (Co-author)
, Tobias B Haack
, Thomas Wieland
, Hartmut Engels
, Holger Prokisch
, Tim M Strom

Hermann-Josef Lüdecke, Dagmar Wieczorek

Department of Pediatrics

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

43 Citations (Web of Science)

Original language	English
Pages (from-to)	183-191
Journal	EUROPEAN JOURNAL OF HUMAN GENETICS
Volume	25
Issue number	2
DOIs	https://doi.org/10.1038/ejhg.2016.165
Publication status	Published - 2017

Keywords

BOHRING-OPITZ SYNDROME
NOVO FRAMESHIFT MUTATION
INTELLECTUAL DISABILITY
GENE
DISORDERS
PHENOTYPE
FAMILY

Access to Document

10.1038/ejhg.2016.165

Cite this

Kuechler, A., Czeschik, J. C., Graf, E., Grasshoff, U., Hüffmeier, U., Busa, T., Beck-Woedl, S., Faivre, L., Rivière, J.-B., Bader, I., Koch, J., Reis, A., Hehr, U., Rittinger, O., Sperl, W., Haack, T. B., Wieland, T., Engels, H., Prokisch, H., ... Wieczorek, D. (2017). Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition. EUROPEAN JOURNAL OF HUMAN GENETICS , 25(2), 183-191. https://doi.org/10.1038/ejhg.2016.165

Kuechler, Alma ; Czeschik, Johanna Christina ; Graf, Elisabeth et al. / Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition. In: EUROPEAN JOURNAL OF HUMAN GENETICS 2017 ; Vol. 25, No. 2. pp. 183-191.

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title = "Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition.",

keywords = "BOHRING-OPITZ SYNDROME, NOVO FRAMESHIFT MUTATION, INTELLECTUAL DISABILITY, GENE, DISORDERS, PHENOTYPE, FAMILY",

author = "Alma Kuechler and Czeschik, \{Johanna Christina\} and Elisabeth Graf and Ute Grasshoff and Ulrike H{\"u}ffmeier and Tiffany Busa and Stefanie Beck-Woedl and Laurence Faivre and Jean-Baptiste Rivi{\`e}re and Ingrid Bader and Johannes Koch and Andr{\'e} Reis and Ute Hehr and Olaf Rittinger and Wolfgang Sperl and Haack, \{Tobias B\} and Thomas Wieland and Hartmut Engels and Holger Prokisch and Strom, \{Tim M\} and Hermann-Josef L{\"u}decke and Dagmar Wieczorek",

note = "Bader, Koch, Rittinger, Sperl: Department of Pediatrics, Paracelsus Medical University, Salzburg, Austria",

year = "2017",

doi = "10.1038/ejhg.2016.165",

language = "English",

volume = "25",

pages = "183--191",

journal = "EUROPEAN JOURNAL OF HUMAN GENETICS ",

issn = "1018-4813",

publisher = "Springer Nature",

number = "2",

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Kuechler, A, Czeschik, JC, Graf, E, Grasshoff, U, Hüffmeier, U, Busa, T, Beck-Woedl, S, Faivre, L, Rivière, J-B, Bader, I, Koch, J, Reis, A, Hehr, U, Rittinger, O, Sperl, W, Haack, TB, Wieland, T, Engels, H, Prokisch, H, Strom, TM, Lüdecke, H-J & Wieczorek, D 2017, 'Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition.', EUROPEAN JOURNAL OF HUMAN GENETICS , vol. 25, no. 2, pp. 183-191. https://doi.org/10.1038/ejhg.2016.165

Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition. / Kuechler, Alma; Czeschik, Johanna Christina; Graf, Elisabeth et al.
In: EUROPEAN JOURNAL OF HUMAN GENETICS , Vol. 25, No. 2, 2017, p. 183-191.

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

TY - JOUR

T1 - Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition.

AU - Kuechler, Alma

AU - Czeschik, Johanna Christina

AU - Graf, Elisabeth

AU - Grasshoff, Ute

AU - Hüffmeier, Ulrike

AU - Busa, Tiffany

AU - Beck-Woedl, Stefanie

AU - Faivre, Laurence

AU - Rivière, Jean-Baptiste

AU - Bader, Ingrid

AU - Koch, Johannes

AU - Reis, André

AU - Hehr, Ute

AU - Rittinger, Olaf

AU - Sperl, Wolfgang

AU - Haack, Tobias B

AU - Wieland, Thomas

AU - Engels, Hartmut

AU - Prokisch, Holger

AU - Strom, Tim M

AU - Lüdecke, Hermann-Josef

AU - Wieczorek, Dagmar

N1 - Bader, Koch, Rittinger, Sperl: Department of Pediatrics, Paracelsus Medical University, Salzburg, Austria

PY - 2017

Y1 - 2017

KW - BOHRING-OPITZ SYNDROME

KW - NOVO FRAMESHIFT MUTATION

KW - INTELLECTUAL DISABILITY

KW - GENE

KW - DISORDERS

KW - PHENOTYPE

KW - FAMILY

U2 - 10.1038/ejhg.2016.165

DO - 10.1038/ejhg.2016.165

M3 - Original Article

C2 - 27901041

SN - 1018-4813

VL - 25

SP - 183

EP - 191

JO - EUROPEAN JOURNAL OF HUMAN GENETICS

JF - EUROPEAN JOURNAL OF HUMAN GENETICS

IS - 2

ER -

Kuechler A, Czeschik JC, Graf E, Grasshoff U, Hüffmeier U, Busa T et al. Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition. EUROPEAN JOURNAL OF HUMAN GENETICS . 2017;25(2):183-191. doi: 10.1038/ejhg.2016.165