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Spondylodysplastic dysplasia

MedGen UID:
1843363
Concept ID:
C4736216
Disease or Syndrome
Synonym: spondylodysplastic dysplasia
 
Monarch Initiative: MONDO:0019694
Orphanet: ORPHA93434

Recent clinical studies

Etiology

Leoni C, Tedesco M, Radio FC, Chillemi G, Leone A, Bruselles A, Ciolfi A, Stellacci E, Pantaleoni F, Butera G, Rigante D, Onesimo R, Tartaglia M, Zampino G
Am J Med Genet A 2021 Oct;185(10):3153-3160. Epub 2021 Jun 23 doi: 10.1002/ajmg.a.62399. PMID: 34159694
Ritelli M, Cinquina V, Giacopuzzi E, Venturini M, Chiarelli N, Colombi M
Genes (Basel) 2019 Aug 21;10(9) doi: 10.3390/genes10090631. PMID: 31438591Free PMC Article

Diagnosis

Leoni C, Tedesco M, Radio FC, Chillemi G, Leone A, Bruselles A, Ciolfi A, Stellacci E, Pantaleoni F, Butera G, Rigante D, Onesimo R, Tartaglia M, Zampino G
Am J Med Genet A 2021 Oct;185(10):3153-3160. Epub 2021 Jun 23 doi: 10.1002/ajmg.a.62399. PMID: 34159694
Caraffi SG, Maini I, Ivanovski I, Pollazzon M, Giangiobbe S, Valli M, Rossi A, Sassi S, Faccioli S, Rocco MD, Magnani C, Campos-Xavier B, Unger S, Superti-Furga A, Garavelli L
Genes (Basel) 2019 Oct 12;10(10) doi: 10.3390/genes10100799. PMID: 31614862Free PMC Article
Mehawej C, Delahodde A, Legeai-Mallet L, Delague V, Kaci N, Desvignes JP, Kibar Z, Capo-Chichi JM, Chouery E, Munnich A, Cormier-Daire V, Mégarbané A
PLoS Genet 2014 May;10(5):e1004311. Epub 2014 May 1 doi: 10.1371/journal.pgen.1004311. PMID: 24786642Free PMC Article

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