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Items: 3

1.

Bruck syndrome 2 variant lacking congenital contractures and involving a novel compound heterozygous PLOD2 mutation.

Mumm S, Gottesman GS, Wenkert D, Campeau PM, Nenninger A, Huskey M, Bijanki VN, Veis DJ, Barnes AM, Marini JC, Stolina M, Zhang F, McAlister WH, Whyte MP.

Bone. 2020 Jan;130:115047. doi: 10.1016/j.bone.2019.115047. Epub 2019 Aug 28.

PMID:
31472299
2.

Osteogenesis imperfecta without features of type V caused by a mutation in the IFITM5 gene.

Grover M, Campeau PM, Lietman CD, Lu JT, Gibbs RA, Schlesinger AE, Lee BH.

J Bone Miner Res. 2013 Nov;28(11):2333-7. doi: 10.1002/jbmr.1983.

3.

Phenotypic variability of osteogenesis imperfecta type V caused by an IFITM5 mutation.

Shapiro JR, Lietman C, Grover M, Lu JT, Nagamani SC, Dawson BC, Baldridge DM, Bainbridge MN, Cohn DH, Blazo M, Roberts TT, Brennen FS, Wu Y, Gibbs RA, Melvin P, Campeau PM, Lee BH.

J Bone Miner Res. 2013 Jul;28(7):1523-30. doi: 10.1002/jbmr.1891.

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