Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with “corner fractures”

Alice Costantini, Helena Valta, Nissan Vida Baratang, Patrick Yap, Débora R. Bertola, Guilherme L. Yamamoto, Chong A. Kim, Jiani Chen, Klaas J. Wierenga, Elizabeth A. Fanning, Luis Escobar, Kirsty McWalter, Heather McLaughlin, Rebecca Willaert, Amber Begtrup, Jessica J. Alm, Dieter P. Reinhardt, Outi Mäkitie, Philippe M. Campeau

Research output: Contribution to journalArticleScientificpeer-review

Original languageEnglish
JournalBone
Volume121
Pages (from-to)163-171
Number of pages9
ISSN8756-3282
DOIs
Publication statusPublished - 2019
MoE publication typeA1 Journal article-refereed

Fields of Science

  • FN1
  • Fibronectin
  • Skeletal dysplasia
  • Corner-fracture
  • Coxa vara
  • Mutation
  • 3111 Biomedicine

Cite this

Costantini, A., Valta, H., Baratang, N. V., Yap, P., Bertola, D. R., Yamamoto, G. L., ... Campeau, P. M. (2019). Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with “corner fractures”. Bone, 121, 163-171. https://doi.org/10.1016/j.bone.2018.12.020
Costantini, Alice ; Valta, Helena ; Baratang, Nissan Vida ; Yap, Patrick ; Bertola, Débora R. ; Yamamoto, Guilherme L. ; Kim, Chong A. ; Chen, Jiani ; Wierenga, Klaas J. ; Fanning, Elizabeth A. ; Escobar, Luis ; McWalter, Kirsty ; McLaughlin, Heather ; Willaert, Rebecca ; Begtrup, Amber ; Alm, Jessica J. ; Reinhardt, Dieter P. ; Mäkitie, Outi ; Campeau, Philippe M. / Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with “corner fractures”. In: Bone. 2019 ; Vol. 121. pp. 163-171.
@article{028b825d74414de4883dedb3da6ae59e,
title = "Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with “corner fractures”",
keywords = "FN1, Fibronectin, Skeletal dysplasia, Corner-fracture, Coxa vara, Mutation, 3111 Biomedicine",
author = "Alice Costantini and Helena Valta and Baratang, {Nissan Vida} and Patrick Yap and Bertola, {D{\'e}bora R.} and Yamamoto, {Guilherme L.} and Kim, {Chong A.} and Jiani Chen and Wierenga, {Klaas J.} and Fanning, {Elizabeth A.} and Luis Escobar and Kirsty McWalter and Heather McLaughlin and Rebecca Willaert and Amber Begtrup and Alm, {Jessica J.} and Reinhardt, {Dieter P.} and Outi M{\"a}kitie and Campeau, {Philippe M.}",
year = "2019",
doi = "10.1016/j.bone.2018.12.020",
language = "English",
volume = "121",
pages = "163--171",
journal = "Bone",
issn = "8756-3282",
publisher = "EXCERPTA MEDICA INC-ELSEVIER SCIENCE INC",

}

Costantini, A, Valta, H, Baratang, NV, Yap, P, Bertola, DR, Yamamoto, GL, Kim, CA, Chen, J, Wierenga, KJ, Fanning, EA, Escobar, L, McWalter, K, McLaughlin, H, Willaert, R, Begtrup, A, Alm, JJ, Reinhardt, DP, Mäkitie, O & Campeau, PM 2019, 'Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with “corner fractures”' Bone, vol. 121, pp. 163-171. https://doi.org/10.1016/j.bone.2018.12.020

Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with “corner fractures”. / Costantini, Alice; Valta, Helena; Baratang, Nissan Vida; Yap, Patrick; Bertola, Débora R.; Yamamoto, Guilherme L.; Kim, Chong A.; Chen, Jiani; Wierenga, Klaas J.; Fanning, Elizabeth A.; Escobar, Luis; McWalter, Kirsty; McLaughlin, Heather; Willaert, Rebecca; Begtrup, Amber; Alm, Jessica J.; Reinhardt, Dieter P.; Mäkitie, Outi; Campeau, Philippe M.

In: Bone, Vol. 121, 2019, p. 163-171.

Research output: Contribution to journalArticleScientificpeer-review

TY - JOUR

T1 - Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with “corner fractures”

AU - Costantini, Alice

AU - Valta, Helena

AU - Baratang, Nissan Vida

AU - Yap, Patrick

AU - Bertola, Débora R.

AU - Yamamoto, Guilherme L.

AU - Kim, Chong A.

AU - Chen, Jiani

AU - Wierenga, Klaas J.

AU - Fanning, Elizabeth A.

AU - Escobar, Luis

AU - McWalter, Kirsty

AU - McLaughlin, Heather

AU - Willaert, Rebecca

AU - Begtrup, Amber

AU - Alm, Jessica J.

AU - Reinhardt, Dieter P.

AU - Mäkitie, Outi

AU - Campeau, Philippe M.

PY - 2019

Y1 - 2019

KW - FN1

KW - Fibronectin

KW - Skeletal dysplasia

KW - Corner-fracture

KW - Coxa vara

KW - Mutation

KW - 3111 Biomedicine

U2 - 10.1016/j.bone.2018.12.020

DO - 10.1016/j.bone.2018.12.020

M3 - Article

VL - 121

SP - 163

EP - 171

JO - Bone

JF - Bone

SN - 8756-3282

ER -