Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2

Minna Pekkinen; Paulien A. Terhal; Lorenzo D. Botto; Petra Henning; Riikka E. Mäkitie; Paul Roschger; Amrita Jain; Matthijs Kol; Matti A. Kjellberg; Eleftherios P. Paschalis; Koen van Gassen; Mary Murray; Pinar Bayrak-Toydemir; Maria K. Magnusson; Judith Jans; Mehran Kausar; John C. Carey; Pentti Somerharju; Ulf H. Lerner; Vesa M. Olkkonen; Klaus Klaushofer; Joost C. M. Holthuis; Outi Mäkitie

doi:10.1172/jci.insight.126180

Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2

Minna Pekkinen, Paulien A. Terhal, Lorenzo D. Botto, Petra Henning, Riikka E. Mäkitie, Paul Roschger, Amrita Jain, Matthijs Kol, Matti A. Kjellberg, Eleftherios P. Paschalis, Koen van Gassen, Mary Murray, Pinar Bayrak-Toydemir, Maria K. Magnusson, Judith Jans, Mehran Kausar, John C. Carey, Pentti Somerharju, Ulf H. Lerner, Vesa M. OlkkonenKlaus Klaushofer, Joost C. M. Holthuis, Outi Mäkitie

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

Original language	English
Article number	126180
Journal	JCI INSIGHT
Volume	4
Issue number	7
Number of pages	20
ISSN	2379-3708
DOIs	https://doi.org/10.1172/jci.insight.126180
Publication status	Published - 4 Apr 2019
MoE publication type	A1 Journal article-refereed

Fields of Science

MINERALIZATION DENSITY DISTRIBUTION
CALVARIAL DOUGHNUT LESIONS
RELATIVE QUANTIFICATION
NORMATIVE DATA
SPHINGOMYELIN
OSTEOGENESIS
METABOLISM
MUTATIONS
SPHINGOSINE-1-PHOSPHATE
OSTEOPETROSIS
3111 Biomedicine

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10.1172/jci.insight.126180

jci.insight.126180.v2Final published version, 1.4 MB

Cite this

Pekkinen, M., Terhal, P. A., Botto, L. D., Henning, P., Mäkitie, R. E., Roschger, P., Jain, A., Kol, M., Kjellberg, M. A., Paschalis, E. P., van Gassen, K., Murray, M., Bayrak-Toydemir, P., Magnusson, M. K., Jans, J., Kausar, M., Carey, J. C., Somerharju, P., Lerner, U. H., ... Mäkitie, O. (2019). Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2. JCI INSIGHT, 4(7), Article 126180. https://doi.org/10.1172/jci.insight.126180

@article{a41741e6481f403bad5a152f51a03a19,

title = "Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2",

keywords = "MINERALIZATION DENSITY DISTRIBUTION, CALVARIAL DOUGHNUT LESIONS, RELATIVE QUANTIFICATION, NORMATIVE DATA, SPHINGOMYELIN, OSTEOGENESIS, METABOLISM, MUTATIONS, SPHINGOSINE-1-PHOSPHATE, OSTEOPETROSIS, 3111 Biomedicine",

author = "Minna Pekkinen and Terhal, {Paulien A.} and Botto, {Lorenzo D.} and Petra Henning and M{\"a}kitie, {Riikka E.} and Paul Roschger and Amrita Jain and Matthijs Kol and Kjellberg, {Matti A.} and Paschalis, {Eleftherios P.} and {van Gassen}, Koen and Mary Murray and Pinar Bayrak-Toydemir and Magnusson, {Maria K.} and Judith Jans and Mehran Kausar and Carey, {John C.} and Pentti Somerharju and Lerner, {Ulf H.} and Olkkonen, {Vesa M.} and Klaus Klaushofer and Holthuis, {Joost C. M.} and Outi M{\"a}kitie",

year = "2019",

month = apr,

day = "4",

doi = "10.1172/jci.insight.126180",

language = "English",

volume = "4",

journal = "JCI INSIGHT",

issn = "2379-3708",

publisher = "AMERICAN SOCIETY FOR CLINICAL INVESTIGATION",

number = "7",

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Pekkinen, M, Terhal, PA, Botto, LD, Henning, P, Mäkitie, RE, Roschger, P, Jain, A, Kol, M, Kjellberg, MA, Paschalis, EP, van Gassen, K, Murray, M, Bayrak-Toydemir, P, Magnusson, MK, Jans, J, Kausar, M, Carey, JC, Somerharju, P, Lerner, UH, Olkkonen, VM, Klaushofer, K, Holthuis, JCM & Mäkitie, O 2019, 'Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2', JCI INSIGHT, vol. 4, no. 7, 126180. https://doi.org/10.1172/jci.insight.126180

TY - JOUR

T1 - Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2

AU - Pekkinen, Minna

AU - Terhal, Paulien A.

AU - Botto, Lorenzo D.

AU - Henning, Petra

AU - Mäkitie, Riikka E.

AU - Roschger, Paul

AU - Jain, Amrita

AU - Kol, Matthijs

AU - Kjellberg, Matti A.

AU - Paschalis, Eleftherios P.

AU - van Gassen, Koen

AU - Murray, Mary

AU - Bayrak-Toydemir, Pinar

AU - Magnusson, Maria K.

AU - Jans, Judith

AU - Kausar, Mehran

AU - Carey, John C.

AU - Somerharju, Pentti

AU - Lerner, Ulf H.

AU - Olkkonen, Vesa M.

AU - Klaushofer, Klaus

AU - Holthuis, Joost C. M.

AU - Mäkitie, Outi

PY - 2019/4/4

Y1 - 2019/4/4

KW - MINERALIZATION DENSITY DISTRIBUTION

KW - CALVARIAL DOUGHNUT LESIONS

KW - RELATIVE QUANTIFICATION

KW - NORMATIVE DATA

KW - SPHINGOMYELIN

KW - OSTEOGENESIS

KW - METABOLISM

KW - MUTATIONS

KW - SPHINGOSINE-1-PHOSPHATE

KW - OSTEOPETROSIS

KW - 3111 Biomedicine

U2 - 10.1172/jci.insight.126180

DO - 10.1172/jci.insight.126180

M3 - Article

SN - 2379-3708

VL - 4

JO - JCI INSIGHT

JF - JCI INSIGHT

IS - 7

M1 - 126180

ER -