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Items: 8

1.

Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with "corner fractures".

Costantini A, Valta H, Baratang NV, Yap P, Bertola DR, Yamamoto GL, Kim CA, Chen J, Wierenga KJ, Fanning EA, Escobar L, McWalter K, McLaughlin H, Willaert R, Begtrup A, Alm JJ, Reinhardt DP, Mäkitie O, Campeau PM.

Bone. 2019 Apr;121:163-171. doi: 10.1016/j.bone.2018.12.020. Epub 2018 Dec 30.

PMID:
30599297
2.

Mechanistic insights into the cellular effects of a novel FN1 variant associated with a spondylometaphyseal dysplasia.

Cadoff EB, Sheffer R, Wientroub S, Ovadia D, Meiner V, Schwarzbauer JE.

Clin Genet. 2018 Nov;94(5):429-437. doi: 10.1111/cge.13424. Epub 2018 Sep 3.

PMID:
30051459
3.

Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures".

Lee CS, Fu H, Baratang N, Rousseau J, Kumra H, Sutton VR, Niceta M, Ciolfi A, Yamamoto G, Bertola D, Marcelis CL, Lugtenberg D, Bartuli A, Kim C, Hoover-Fong J, Sobreira N, Pauli R, Bacino C, Krakow D, Parboosingh J, Yap P, Kariminejad A, McDonald MT, Aracena MI, Lausch E, Unger S, Superti-Furga A, Lu JT; Baylor-Hopkins Center for Mendelian Genomics, Cohn DH, Tartaglia M, Lee BH, Reinhardt DP, Campeau PM.

Am J Hum Genet. 2017 Nov 2;101(5):815-823. doi: 10.1016/j.ajhg.2017.09.019.

4.

A dominantly inherited spondylometaphyseal dysplasia with "corner fractures" and congenital scoliosis.

Sutton VR, Hyland JC, Phillips WA, Schlesinger AE, Brill PW.

Am J Med Genet A. 2005 Mar 1;133A(2):209-12.

PMID:
15666313
5.
6.

Spondylometaphyseal dysplasia, Sutcliffe type: a rediscovered entity.

Kozlowski K, Napiontek M, Beim ER.

Can Assoc Radiol J. 1992 Oct;43(5):364-8.

PMID:
1393702
7.

Spondylometaphyseal dysplasia, corner fracture type: a heritable condition associated with coxa vara.

Langer LO Jr, Brill PW, Ozonoff MB, Pauli RM, Wilson WG, Alford BA, Pavlov H, Drake DG.

Radiology. 1990 Jun;175(3):761-6.

PMID:
2343127
8.

Spondylometaphyseal dysplasia: a variant form.

Felman AH, Frias JL, Rennert OM.

Radiology. 1974 Nov;113(2):409-15. No abstract available.

PMID:
4419008

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