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Calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia(CDLSMD)

MedGen UID:
1674505
•Concept ID:
C5193004
•
Disease or Syndrome
Synonyms: CALVARIAL DOUGHNUT LESIONS WITH BONE FRAGILITY AND SPONDYLOMETAPHYSEAL DYSPLASIA; CDLSMD
 
Monarch Initiative: MONDO:0800204
OMIM®: 126550; 611574

Recent clinical studies

Etiology

SGMS2 in primary osteoporosis with facial nerve palsy.
Pihlström S, Richardt S, Määttä K, Pekkinen M, Olkkonen VM, Mäkitie O, Mäkitie RE
Front Endocrinol (Lausanne) 2023;14:1224318. Epub 2023 Oct 11 doi: 10.3389/fendo.2023.1224318. PMID: 37886644Free PMC Article
Clinical and Genetic Characteristics of Calvarial Doughnut Lesions with Bone Fragility in Three Families with a Reccurent SGMS2 Gene Variant.
Merkuryeva E, Markova T, Tyurin A, Valeeva D, Kenis V, Sumina M, Sorokin I, Shchagina O, Skoblov M, Nefedova M, Khusainova R, Zakharova E, Dadali E, Kutsev S
Int J Mol Sci 2023 Apr 28;24(9) doi: 10.3390/ijms24098021. PMID: 37175737Free PMC Article

Diagnosis

Clinical and Genetic Characteristics of Calvarial Doughnut Lesions with Bone Fragility in Three Families with a Reccurent SGMS2 Gene Variant.
Merkuryeva E, Markova T, Tyurin A, Valeeva D, Kenis V, Sumina M, Sorokin I, Shchagina O, Skoblov M, Nefedova M, Khusainova R, Zakharova E, Dadali E, Kutsev S
Int J Mol Sci 2023 Apr 28;24(9) doi: 10.3390/ijms24098021. PMID: 37175737Free PMC Article

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