Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia

ML Reilly; NU Ain; M Muurinen; A Tata; C Huber; M Simon; T Ishaq; N J Shaw; S Rusanen; M Pekkinen; Wolfgang Högler; MFCM Knapen; M van den Born; S Saunier; S Naz; V Cormier-Daire; A Benmerah; O Mäkitie

doi:10.1002/jbmr.4639

Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia

ML Reilly
, NU Ain
, M Muurinen
, A Tata
, C Huber
, M Simon
, T Ishaq
, N J Shaw
, S Rusanen
, M Pekkinen
, Wolfgang Högler
, MFCM Knapen
, M van den Born
, S Saunier
, S Naz
, V Cormier-Daire
, A Benmerah
, O Mäkitie

Department of Pediatrics and Adolescent Medicine

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

Original language	English
Pages (from-to)	1642-1652
Number of pages	11
Journal	The Journal of Bone and Mineral Research
Volume	37
Issue number	9
DOIs	https://doi.org/10.1002/jbmr.4639
Publication status	Published - Sept 2022

Fields of science

302035 Paediatrics and adolescent medicine

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10.1002/jbmr.4639

Cite this

Reilly, ML., Ain, NU., Muurinen, M., Tata, A., Huber, C., Simon, M., Ishaq, T., Shaw, N. J., Rusanen, S., Pekkinen, M., Högler, W., Knapen, MFCM., van den Born, M., Saunier, S., Naz, S., Cormier-Daire, V., Benmerah, A., & Mäkitie, O. (2022). Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia. The Journal of Bone and Mineral Research, 37(9), 1642-1652. https://doi.org/10.1002/jbmr.4639

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title = "Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia",

author = "ML Reilly and NU Ain and M Muurinen and A Tata and C Huber and M Simon and T Ishaq and Shaw, \{N J\} and S Rusanen and M Pekkinen and Wolfgang H{\"o}gler and MFCM Knapen and \{van den Born\}, M and S Saunier and S Naz and V Cormier-Daire and A Benmerah and O M{\"a}kitie",

year = "2022",

month = sep,

doi = "10.1002/jbmr.4639",

language = "English",

volume = "37",

pages = "1642--1652",

journal = "The Journal of Bone and Mineral Research",

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Reilly, ML, Ain, NU, Muurinen, M, Tata, A, Huber, C, Simon, M, Ishaq, T, Shaw, NJ, Rusanen, S, Pekkinen, M, Högler, W, Knapen, MFCM, van den Born, M, Saunier, S, Naz, S, Cormier-Daire, V, Benmerah, A & Mäkitie, O 2022, 'Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia', The Journal of Bone and Mineral Research, vol. 37, no. 9, pp. 1642-1652. https://doi.org/10.1002/jbmr.4639

TY - JOUR

T1 - Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia

AU - Reilly, ML

AU - Ain, NU

AU - Muurinen, M

AU - Tata, A

AU - Huber, C

AU - Simon, M

AU - Ishaq, T

AU - Shaw, N J

AU - Rusanen, S

AU - Pekkinen, M

AU - Högler, Wolfgang

AU - Knapen, MFCM

AU - van den Born, M

AU - Saunier, S

AU - Naz, S

AU - Cormier-Daire, V

AU - Benmerah, A

AU - Mäkitie, O

PY - 2022/9

Y1 - 2022/9

UR - https://www.scopus.com/pages/publications/85134218906

U2 - 10.1002/jbmr.4639

DO - 10.1002/jbmr.4639

M3 - Article

C2 - 35748595

VL - 37

SP - 1642

EP - 1652

JO - The Journal of Bone and Mineral Research

JF - The Journal of Bone and Mineral Research

IS - 9

ER -

Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia

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