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 & 3 others Klaus Klaushofer, Joost C. M. Holthuis, Outi Mäkitie

Research output: Contribution to journalArticleScientificpeer-review

Original languageEnglish
Article number126180
JournalJCI INSIGHT
Volume4
Issue number7
Number of pages20
ISSN2379-3708
DOIs
Publication statusPublished - 4 Apr 2019
MoE publication typeA1 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

Cite this

Pekkinen, Minna ; Terhal, Paulien A. ; Botto, Lorenzo D. ; Henning, Petra ; Mäkitie, Riikka E. ; Roschger, Paul ; Jain, Amrita ; Kol, Matthijs ; Kjellberg, Matti A. ; Paschalis, Eleftherios P. ; van Gassen, Koen ; Murray, Mary ; Bayrak-Toydemir, Pinar ; Magnusson, Maria K. ; Jans, Judith ; Kausar, Mehran ; Carey, John C. ; Somerharju, Pentti ; Lerner, Ulf H. ; Olkkonen, Vesa M. ; Klaushofer, Klaus ; Holthuis, Joost C. M. ; Mäkitie, Outi. / Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2. In: JCI INSIGHT. 2019 ; Vol. 4, No. 7.
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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 = "4",
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",

}

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

Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2. / Pekkinen, Minna; Terhal, Paulien A.; Botto, Lorenzo D.; Henning, Petra; Mäkitie, Riikka E.; Roschger, Paul; Jain, Amrita; Kol, Matthijs; Kjellberg, Matti A.; Paschalis, Eleftherios P.; van Gassen, Koen; Murray, Mary; Bayrak-Toydemir, Pinar; Magnusson, Maria K.; Jans, Judith; Kausar, Mehran; Carey, John C.; Somerharju, Pentti; Lerner, Ulf H.; Olkkonen, Vesa M.; Klaushofer, Klaus; Holthuis, Joost C. M.; Mäkitie, Outi.

In: JCI INSIGHT, Vol. 4, No. 7, 126180, 04.04.2019.

Research output: Contribution to journalArticleScientificpeer-review

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

VL - 4

JO - JCI INSIGHT

JF - JCI INSIGHT

SN - 2379-3708

IS - 7

M1 - 126180

ER -