A clinical scoring system for congenital contractural arachnodactyly

Ilse Meerschaut; Shana De Coninck; Wouter Steyaert; Angela Barnicoat; Allan Bayat; Francesco Benedicenti; Siren Berland; Edward M. Blair; Jeroen Breckpot; Anna De Burca; Anne Destree; Sixto Garcia-Minaur; Andrew J. Green; Bernadette C. Hanna; Kathelijn Keymolen; Marije Koopmans; Damien Lederer; Melissa Lees; Cheryl Longman; Sally Ann Lynch; Alison M. Male; Fiona McKenzie; Isabelle Migeotte; Ercan Mihci; Banu Nur; Florence Petit; Juliette Piard; Frank S. Plasschaert; Anita Rauch; Pascale Ribai; Iratxe Salcedo Pacheco; Franco Stanzial; Irene Stolte-Dijkstra; Irene Valenzuela; Vinod Varghese; Pradeep C. Vasudevan; Emma Wakeling; Carina Wallgren-Pettersson; Paul Coucke; Anne De Paepe; Daniel De Wolf; Sofie Symoens; Bert Callewaert

doi:10.1038/s41436-019-0609-8

A clinical scoring system for congenital contractural arachnodactyly

Ilse Meerschaut, Shana De Coninck, Wouter Steyaert, Angela Barnicoat, Allan Bayat, Francesco Benedicenti, Siren Berland, Edward M. Blair, Jeroen Breckpot, Anna De Burca, Anne Destree, Sixto Garcia-Minaur, Andrew J. Green, Bernadette C. Hanna, Kathelijn Keymolen, Marije Koopmans, Damien Lederer, Melissa Lees, Cheryl Longman, Sally Ann LynchAlison M. Male, Fiona McKenzie, Isabelle Migeotte, Ercan Mihci, Banu Nur, Florence Petit, Juliette Piard, Frank S. Plasschaert, Anita Rauch, Pascale Ribai, Iratxe Salcedo Pacheco, Franco Stanzial, Irene Stolte-Dijkstra, Irene Valenzuela, Vinod Varghese, Pradeep C. Vasudevan, Emma Wakeling, Carina Wallgren-Pettersson, Paul Coucke, Anne De Paepe, Daniel De Wolf, Sofie Symoens, Bert Callewaert

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

Original language	English
Journal	Genetics In medicine
Volume	22
Issue number	1
Pages (from-to)	124-131
Number of pages	8
ISSN	1098-3600
DOIs	https://doi.org/10.1038/s41436-019-0609-8
Publication status	Published - Jan 2020
MoE publication type	A1 Journal article-refereed

Fields of Science

congenital contractural arachnodactyly
Beals syndrome
fibrillin-2
clinical score
diagnostic criteria
MARFAN-SYNDROME
FBN2 MUTATIONS
FIBRILLIN
PATHOGENESIS
PROBANDS
DELINEATION
DILATATION
DISORDER
3111 Biomedicine
1184 Genetics, developmental biology, physiology

Access to Document

10.1038/s41436-019-0609-8

Cite this

Meerschaut, I., De Coninck, S., Steyaert, W., Barnicoat, A., Bayat, A., Benedicenti, F., Berland, S., Blair, E. M., Breckpot, J., De Burca, A., Destree, A., Garcia-Minaur, S., Green, A. J., Hanna, B. C., Keymolen, K., Koopmans, M., Lederer, D., Lees, M., Longman, C., ... Callewaert, B. (2020). A clinical scoring system for congenital contractural arachnodactyly. Genetics In medicine, 22(1), 124-131. https://doi.org/10.1038/s41436-019-0609-8

@article{bf207a1184ee47cc8103b5df9991467a,

title = "A clinical scoring system for congenital contractural arachnodactyly",

keywords = "congenital contractural arachnodactyly, Beals syndrome, fibrillin-2, clinical score, diagnostic criteria, MARFAN-SYNDROME, FBN2 MUTATIONS, FIBRILLIN, PATHOGENESIS, PROBANDS, DELINEATION, DILATATION, DISORDER, 3111 Biomedicine, 1184 Genetics, developmental biology, physiology",

author = "Ilse Meerschaut and {De Coninck}, Shana and Wouter Steyaert and Angela Barnicoat and Allan Bayat and Francesco Benedicenti and Siren Berland and Blair, {Edward M.} and Jeroen Breckpot and {De Burca}, Anna and Anne Destree and Sixto Garcia-Minaur and Green, {Andrew J.} and Hanna, {Bernadette C.} and Kathelijn Keymolen and Marije Koopmans and Damien Lederer and Melissa Lees and Cheryl Longman and Lynch, {Sally Ann} and Male, {Alison M.} and Fiona McKenzie and Isabelle Migeotte and Ercan Mihci and Banu Nur and Florence Petit and Juliette Piard and Plasschaert, {Frank S.} and Anita Rauch and Pascale Ribai and Pacheco, {Iratxe Salcedo} and Franco Stanzial and Irene Stolte-Dijkstra and Irene Valenzuela and Vinod Varghese and Vasudevan, {Pradeep C.} and Emma Wakeling and Carina Wallgren-Pettersson and Paul Coucke and {De Paepe}, Anne and {De Wolf}, Daniel and Sofie Symoens and Bert Callewaert",

year = "2020",

month = jan,

doi = "10.1038/s41436-019-0609-8",

language = "English",

volume = "22",

pages = "124--131",

journal = "Genetics In medicine",

issn = "1098-3600",

publisher = "Nature Publishing Group",

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Meerschaut, I, De Coninck, S, Steyaert, W, Barnicoat, A, Bayat, A, Benedicenti, F, Berland, S, Blair, EM, Breckpot, J, De Burca, A, Destree, A, Garcia-Minaur, S, Green, AJ, Hanna, BC, Keymolen, K, Koopmans, M, Lederer, D, Lees, M, Longman, C, Lynch, SA, Male, AM, McKenzie, F, Migeotte, I, Mihci, E, Nur, B, Petit, F, Piard, J, Plasschaert, FS, Rauch, A, Ribai, P, Pacheco, IS, Stanzial, F, Stolte-Dijkstra, I, Valenzuela, I, Varghese, V, Vasudevan, PC, Wakeling, E, Wallgren-Pettersson, C, Coucke, P, De Paepe, A, De Wolf, D, Symoens, S & Callewaert, B 2020, 'A clinical scoring system for congenital contractural arachnodactyly', Genetics In medicine, vol. 22, no. 1, pp. 124-131. https://doi.org/10.1038/s41436-019-0609-8

TY - JOUR

T1 - A clinical scoring system for congenital contractural arachnodactyly

AU - Meerschaut, Ilse

AU - De Coninck, Shana

AU - Steyaert, Wouter

AU - Barnicoat, Angela

AU - Bayat, Allan

AU - Benedicenti, Francesco

AU - Berland, Siren

AU - Blair, Edward M.

AU - Breckpot, Jeroen

AU - De Burca, Anna

AU - Destree, Anne

AU - Garcia-Minaur, Sixto

AU - Green, Andrew J.

AU - Hanna, Bernadette C.

AU - Keymolen, Kathelijn

AU - Koopmans, Marije

AU - Lederer, Damien

AU - Lees, Melissa

AU - Longman, Cheryl

AU - Lynch, Sally Ann

AU - Male, Alison M.

AU - McKenzie, Fiona

AU - Migeotte, Isabelle

AU - Mihci, Ercan

AU - Nur, Banu

AU - Petit, Florence

AU - Piard, Juliette

AU - Plasschaert, Frank S.

AU - Rauch, Anita

AU - Ribai, Pascale

AU - Pacheco, Iratxe Salcedo

AU - Stanzial, Franco

AU - Stolte-Dijkstra, Irene

AU - Valenzuela, Irene

AU - Varghese, Vinod

AU - Vasudevan, Pradeep C.

AU - Wakeling, Emma

AU - Wallgren-Pettersson, Carina

AU - Coucke, Paul

AU - De Paepe, Anne

AU - De Wolf, Daniel

AU - Symoens, Sofie

AU - Callewaert, Bert

PY - 2020/1

Y1 - 2020/1

KW - congenital contractural arachnodactyly

KW - Beals syndrome

KW - fibrillin-2

KW - clinical score

KW - diagnostic criteria

KW - MARFAN-SYNDROME

KW - FBN2 MUTATIONS

KW - FIBRILLIN

KW - PATHOGENESIS

KW - PROBANDS

KW - DELINEATION

KW - DILATATION

KW - DISORDER

KW - 3111 Biomedicine

KW - 1184 Genetics, developmental biology, physiology

U2 - 10.1038/s41436-019-0609-8

DO - 10.1038/s41436-019-0609-8

M3 - Article

VL - 22

SP - 124

EP - 131

JO - Genetics In medicine

JF - Genetics In medicine

SN - 1098-3600

IS - 1

ER -