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Brittle bone disorder

MedGen UID:
347059
Concept ID:
C1859069
Disease or Syndrome
Synonym: Brittle Bone Disorder
 
Monarch Initiative: MONDO:0011375
OMIM®: 603828

Recent clinical studies

Etiology

Alanay Y, Avaygan H, Camacho N, Utine GE, Boduroglu K, Aktas D, Alikasifoglu M, Tuncbilek E, Orhan D, Bakar FT, Zabel B, Superti-Furga A, Bruckner-Tuderman L, Curry CJ, Pyott S, Byers PH, Eyre DR, Baldridge D, Lee B, Merrill AE, Davis EC, Cohn DH, Akarsu N, Krakow D
Am J Hum Genet 2010 Apr 9;86(4):551-9. Epub 2010 Apr 1 doi: 10.1016/j.ajhg.2010.02.022. PMID: 20362275Free PMC Article
Pihlajaniemi T, Dickson LA, Pope FM, Korhonen VR, Nicholls A, Prockop DJ, Myers JC
J Biol Chem 1984 Nov 10;259(21):12941-4. PMID: 6092353

Therapy

Chamberlain JR, Deyle DR, Schwarze U, Wang P, Hirata RK, Li Y, Byers PH, Russell DW
Mol Ther 2008 Jan;16(1):187-93. Epub 2007 Oct 23 doi: 10.1038/sj.mt.6300339. PMID: 17955022Free PMC Article

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