Clinical characterization of 6 additional cases  with a ARCN1 mutation: from severe fetal presentation to  a recognizable craniofacial short stature syndrome

Marjan De Rademaeker; Kim Van Berkel; Jean De Schepper; Willem Staels; Annick France; Nele Boecx; Geert R Mortier; Marije Meuwissen; Wim Wuyts; Stefanie Brock; K.  Keymolen; Elise Vantroys; Ileen Slegers; Astrid Leus; Boyan Dimitrov

Clinical characterization of 6 additional cases with a ARCN1 mutation: from severe fetal presentation to a recognizable craniofacial short stature syndrome

Marjan De Rademaeker
, Kim Van Berkel
, Jean De Schepper
, Willem Staels
, Annick France
, Nele Boecx
, Geert R Mortier
, Marije Meuwissen
, Wim Wuyts
, Stefanie Brock
, K. Keymolen
, Elise Vantroys
, Ileen Slegers
, Astrid Leus
, Boyan Dimitrov

Onderzoeksoutput: Unpublished abstract

Originele taal-2	English
Pagina's	71
Aantal pagina's	1
Status	Published - sep. 2022
Evenement	EuroDysmorpo 2022: 32nd European Meeting on Dysmorphology - Hospital Sant Joan de Déu Barcelona, Barcelona, Spain Duur: 14 sep. 2022 → 17 sep. 2022

Conference

Conference	EuroDysmorpo 2022
Land/Regio	Spain
Stad	Barcelona
Periode	14/09/22 → 17/09/22

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Permanente koppeling

Andere bestanden en links

https://ern-ithaca.eu/wp-content/uploads/2022/09/ABSTRACT-BOOK-V4.pdf

FWOTM1035: De rol van ijzer metabolisme in bèta-cell differentiatie, maturatie en functie.
Staels, W. (Administrative Promotor)
1/10/20 → 30/09/25
Project: Fundamenteel

Citeer dit

De Rademaeker, M., Van Berkel, K., De Schepper, J., Staels, W., France, A., Boecx, N., Mortier, G. R., Meuwissen, M., Wuyts, W., Brock, S., Keymolen, K., Vantroys, E., Slegers, I., Leus, A., & Dimitrov, B. (2022). Clinical characterization of 6 additional cases with a ARCN1 mutation: from severe fetal presentation to a recognizable craniofacial short stature syndrome. 71. Abstract van EuroDysmorpo 2022, Barcelona, Spain.

@conference{00bfd10a700942cea8a204a0b27acf14,

title = "Clinical characterization of 6 additional cases with a ARCN1 mutation: from severe fetal presentation to a recognizable craniofacial short stature syndrome",

author = "\{De Rademaeker\}, Marjan and \{Van Berkel\}, Kim and \{De Schepper\}, Jean and Willem Staels and Annick France and Nele Boecx and Mortier, \{Geert R\} and Marije Meuwissen and Wim Wuyts and Stefanie Brock and K. Keymolen and Elise Vantroys and Ileen Slegers and Astrid Leus and Boyan Dimitrov",

year = "2022",

month = sep,

language = "English",

pages = "71",

note = "EuroDysmorpo 2022 ; Conference date: 14-09-2022 Through 17-09-2022",

}

De Rademaeker, M, Van Berkel, K , De Schepper, J , Staels, W, France, A, Boecx, N, Mortier, GR, Meuwissen, M, Wuyts, W, Brock, S , Keymolen, K , Vantroys, E , Slegers, I , Leus, A & Dimitrov, B 2022, 'Clinical characterization of 6 additional cases with a ARCN1 mutation: from severe fetal presentation to a recognizable craniofacial short stature syndrome', EuroDysmorpo 2022, Barcelona, Spain, 14/09/22 - 17/09/22 blz. 71.

TY - CONF

T1 - Clinical characterization of 6 additional cases with a ARCN1 mutation: from severe fetal presentation to a recognizable craniofacial short stature syndrome

AU - De Rademaeker, Marjan

AU - Van Berkel, Kim

AU - De Schepper, Jean

AU - Staels, Willem

AU - France, Annick

AU - Boecx, Nele

AU - Mortier, Geert R

AU - Meuwissen, Marije

AU - Wuyts, Wim

AU - Brock, Stefanie

AU - Keymolen, K.

AU - Vantroys, Elise

AU - Slegers, Ileen

AU - Leus, Astrid

AU - Dimitrov, Boyan

PY - 2022/9

Y1 - 2022/9

UR - https://ern-ithaca.eu/wp-content/uploads/2022/09/ABSTRACT-BOOK-V4.pdf

M3 - Unpublished abstract

SP - 71

T2 - EuroDysmorpo 2022

Y2 - 14 September 2022 through 17 September 2022

ER -

Clinical characterization of 6 additional cases with a ARCN1 mutation: from severe fetal presentation to a recognizable craniofacial short stature syndrome

Conference

Handle.net

Andere bestanden en links

Projecten

FWOTM1035: De rol van ijzer metabolisme in bèta-cell differentiatie, maturatie en functie.

Citeer dit