NovelRPL13Variants and Variable Clinical Expressivity in a Human Ribosomopathy With Spondyloepimetaphyseal Dysplasia

Alice Costantini; Jessica J. Alm; Francesca Tonelli; Helena Valta; Celine Huber; Anh N. Tran; Valentina Daponte; Nadi Kirova; Yong-Uk Kwon; Jung Yun Bae; Woo Yeong Chung; Shengjiang Tan; Yves Sznajer; Gen Nishimura; Tuomas Nareoja; Alan J. Warren; Valerie Cormier-Daire; Ok-Hwa Kim; Antonella Forlino; Tae-Joon Cho; Outi Mäkitie

doi:10.1002/jbmr.4177

NovelRPL13Variants and Variable Clinical Expressivity in a Human Ribosomopathy With Spondyloepimetaphyseal Dysplasia

Alice Costantini, Jessica J. Alm, Francesca Tonelli, Helena Valta, Celine Huber, Anh N. Tran, Valentina Daponte, Nadi Kirova, Yong-Uk Kwon, Jung Yun Bae, Woo Yeong Chung, Shengjiang Tan, Yves Sznajer, Gen Nishimura, Tuomas Nareoja, Alan J. Warren, Valerie Cormier-Daire, Ok-Hwa Kim, Antonella Forlino, Tae-Joon ChoOuti Mäkitie

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

Original language	English
Journal	Journal of Bone and Mineral Research
Volume	36
Issue number	2
Pages (from-to)	283-297
Number of pages	15
ISSN	0884-0431
DOIs	https://doi.org/10.1002/jbmr.4177
Publication status	Published - Feb 2021
MoE publication type	A1 Journal article-refereed

Fields of Science

CRISPR-CAS9
INCOMPLETE PENETRANCE
RIBOSOMOPATHY
RPL13
SPONDYLOEPIMETAPHYSEAL DYSPLASIA
VARIABLE EXPRESSIVITY
ZEBRAFISH
WEB TOOL
MUTATIONS
SKELETAL
GENE
CHOPCHOP
ENCODES
3121 General medicine, internal medicine and other clinical medicine

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10.1002/jbmr.4177Licence: CC BY

Constantini et al., NovelRPL13Variants and Variable Clinical Expressivity ina Human Ribosomopathy With SpondyloepimetaphysealFinal published version, 7.73 MBLicence: CC BY

Cite this

Costantini, A., Alm, J. J., Tonelli, F., Valta, H., Huber, C., Tran, A. N., Daponte, V., Kirova, N., Kwon, Y-U., Bae, J. Y., Chung, W. Y., Tan, S., Sznajer, Y., Nishimura, G., Nareoja, T., Warren, A. J., Cormier-Daire, V., Kim, O-H., Forlino, A., ... Mäkitie, O. (2021). NovelRPL13Variants and Variable Clinical Expressivity in a Human Ribosomopathy With Spondyloepimetaphyseal Dysplasia. Journal of Bone and Mineral Research, 36(2), 283-297. https://doi.org/10.1002/jbmr.4177

@article{17112cdf888641839cc648af01a5fc59,

title = "NovelRPL13Variants and Variable Clinical Expressivity in a Human Ribosomopathy With Spondyloepimetaphyseal Dysplasia",

keywords = "CRISPR-CAS9, INCOMPLETE PENETRANCE, RIBOSOMOPATHY, RPL13, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, VARIABLE EXPRESSIVITY, ZEBRAFISH, WEB TOOL, MUTATIONS, SKELETAL, GENE, CHOPCHOP, ENCODES, 3121 General medicine, internal medicine and other clinical medicine",

author = "Alice Costantini and Alm, {Jessica J.} and Francesca Tonelli and Helena Valta and Celine Huber and Tran, {Anh N.} and Valentina Daponte and Nadi Kirova and Yong-Uk Kwon and Bae, {Jung Yun} and Chung, {Woo Yeong} and Shengjiang Tan and Yves Sznajer and Gen Nishimura and Tuomas Nareoja and Warren, {Alan J.} and Valerie Cormier-Daire and Ok-Hwa Kim and Antonella Forlino and Tae-Joon Cho and Outi M{\"a}kitie",

year = "2021",

month = feb,

doi = "10.1002/jbmr.4177",

language = "English",

volume = "36",

pages = "283--297",

journal = "Journal of Bone and Mineral Research",

issn = "0884-0431",

publisher = "Wiley",

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Costantini, A, Alm, JJ, Tonelli, F, Valta, H, Huber, C, Tran, AN, Daponte, V, Kirova, N, Kwon, Y-U, Bae, JY, Chung, WY, Tan, S, Sznajer, Y, Nishimura, G, Nareoja, T, Warren, AJ, Cormier-Daire, V, Kim, O-H, Forlino, A, Cho, T-J & Mäkitie, O 2021, 'NovelRPL13Variants and Variable Clinical Expressivity in a Human Ribosomopathy With Spondyloepimetaphyseal Dysplasia', Journal of Bone and Mineral Research, vol. 36, no. 2, pp. 283-297. https://doi.org/10.1002/jbmr.4177

TY - JOUR

T1 - NovelRPL13Variants and Variable Clinical Expressivity in a Human Ribosomopathy With Spondyloepimetaphyseal Dysplasia

AU - Costantini, Alice

AU - Alm, Jessica J.

AU - Tonelli, Francesca

AU - Valta, Helena

AU - Huber, Celine

AU - Tran, Anh N.

AU - Daponte, Valentina

AU - Kirova, Nadi

AU - Kwon, Yong-Uk

AU - Bae, Jung Yun

AU - Chung, Woo Yeong

AU - Tan, Shengjiang

AU - Sznajer, Yves

AU - Nishimura, Gen

AU - Nareoja, Tuomas

AU - Warren, Alan J.

AU - Cormier-Daire, Valerie

AU - Kim, Ok-Hwa

AU - Forlino, Antonella

AU - Cho, Tae-Joon

AU - Mäkitie, Outi

PY - 2021/2

Y1 - 2021/2

KW - CRISPR-CAS9

KW - INCOMPLETE PENETRANCE

KW - RIBOSOMOPATHY

KW - RPL13

KW - SPONDYLOEPIMETAPHYSEAL DYSPLASIA

KW - VARIABLE EXPRESSIVITY

KW - ZEBRAFISH

KW - WEB TOOL

KW - MUTATIONS

KW - SKELETAL

KW - GENE

KW - CHOPCHOP

KW - ENCODES

KW - 3121 General medicine, internal medicine and other clinical medicine

U2 - 10.1002/jbmr.4177

DO - 10.1002/jbmr.4177

M3 - Article

VL - 36

SP - 283

EP - 297

JO - Journal of Bone and Mineral Research

JF - Journal of Bone and Mineral Research

SN - 0884-0431

IS - 2

ER -