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

Madeline Louise Reilly; Noor ul Ain; Mari Muurinen; Alice Tata; Celine Huber; Marleen Simon; Tayyaba Ishaq; Nick Shaw; Salla Rusanen; Minna Pekkinen; Wolfgang Hogler; Maarten F. C. M. Knapen; Myrthe van den Born; Sophie Saunier; Sadaf Naz; Valerie Cormier-Daire; Alexandre Benmerah; Outi 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

Madeline Louise Reilly
, Noor ul Ain
, Mari Muurinen
, Alice Tata
, Celine Huber
, Marleen Simon
, Tayyaba Ishaq
, Nick Shaw
, Salla Rusanen
, Minna Pekkinen
, Wolfgang Hogler
, Maarten F. C. M. Knapen
, Myrthe van den Born
, Sophie Saunier
, Sadaf Naz
, Valerie Cormier-Daire
, Alexandre Benmerah
, Outi Mäkitie

Tutkimustuotos: Artikkelijulkaisu › Artikkeli › Tieteellinen › vertaisarvioitu

Alkuperäiskieli	englanti
Lehti	Journal of Bone and Mineral Research
Vuosikerta	37
Numero	9
Sivut	1642-1652
Sivumäärä	11
ISSN	0884-0431
DOI - pysyväislinkit	https://doi.org/10.1002/jbmr.4639
Tila	Julkaistu - syysk. 2022
OKM-julkaisutyyppi	A1 Alkuperäisartikkeli tieteellisessä aikakauslehdessä, vertaisarvioitu

Tieteenalat

3121 Yleislääketiede, sisätaudit ja muut kliiniset lääketieteet

Pääsy asiakirjaan

10.1002/jbmr.4639

J_of_Bone_Mineral_Res_2022_Reilly_Biallelic_KIF24_Variants_Are_Responsible_for_a_Spectrum_of_Skeletal_Disorders (1)Lopullinen julkaistu versio, 9,05 MBLisenssi: CC BY

Siteeraa tätä

Reilly, M. L., ul Ain, N., Muurinen, M., Tata, A., Huber, C., Simon, M., Ishaq, T., Shaw, N., Rusanen, S., Pekkinen, M., Hogler, W., Knapen, M. F. C. M., 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. Journal of Bone and Mineral Research, 37(9), 1642-1652. https://doi.org/10.1002/jbmr.4639

@article{5fb2834c055548a1abea5dc5ddd3edb9,

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

keywords = "ACROMESOMELIC DYSPLASIA, SKELETAL DYSPLASIA, PRIMARY CILIA, CILIOPATHIES, KINESIN, MUTATIONS, CP110, CILIA, 3121 General medicine, internal medicine and other clinical medicine",

author = "Reilly, \{Madeline Louise\} and \{ul Ain\}, Noor and Mari Muurinen and Alice Tata and Celine Huber and Marleen Simon and Tayyaba Ishaq and Nick Shaw and Salla Rusanen and Minna Pekkinen and Wolfgang Hogler and Knapen, \{Maarten F. C. M.\} and \{van den Born\}, Myrthe and Sophie Saunier and Sadaf Naz and Valerie Cormier-Daire and Alexandre Benmerah and Outi M{\"a}kitie",

year = "2022",

month = sep,

doi = "10.1002/jbmr.4639",

language = "English",

volume = "37",

pages = "1642--1652",

journal = "Journal of Bone and Mineral Research",

issn = "0884-0431",

publisher = "Oxford University Press",

number = "9",

}

Reilly, ML, ul Ain, N, Muurinen, M, Tata, A, Huber, C, Simon, M, Ishaq, T, Shaw, N, Rusanen, S, Pekkinen, M, Hogler, 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', Journal of Bone and Mineral Research, Vuosikerta 37, Nro 9, Sivut 1642-1652. https://doi.org/10.1002/jbmr.4639

Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia. / Reilly, Madeline Louise; ul Ain, Noor; Muurinen, Mari et al.
julkaisussa: Journal of Bone and Mineral Research, Vuosikerta 37, Nro 9, 09.2022, s. 1642-1652.

Tutkimustuotos: Artikkelijulkaisu › Artikkeli › Tieteellinen › vertaisarvioitu

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, Madeline Louise

AU - ul Ain, Noor

AU - Muurinen, Mari

AU - Tata, Alice

AU - Huber, Celine

AU - Simon, Marleen

AU - Ishaq, Tayyaba

AU - Shaw, Nick

AU - Rusanen, Salla

AU - Pekkinen, Minna

AU - Hogler, Wolfgang

AU - Knapen, Maarten F. C. M.

AU - van den Born, Myrthe

AU - Saunier, Sophie

AU - Naz, Sadaf

AU - Cormier-Daire, Valerie

AU - Benmerah, Alexandre

AU - Mäkitie, Outi

PY - 2022/9

Y1 - 2022/9

KW - ACROMESOMELIC DYSPLASIA

KW - SKELETAL DYSPLASIA

KW - PRIMARY CILIA

KW - CILIOPATHIES

KW - KINESIN

KW - MUTATIONS

KW - CP110

KW - CILIA

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

U2 - 10.1002/jbmr.4639

DO - 10.1002/jbmr.4639

M3 - Article

SN - 0884-0431

VL - 37

SP - 1642

EP - 1652

JO - Journal of Bone and Mineral Research

JF - Journal of Bone and Mineral Research

IS - 9

ER -