Four patients with Sillence type I osteogenesis imperfecta and mild bone fragility, complicated by left ventricular cardiac valvular disease and cardiac tissue fragility caused by type I collagen mutations

Anthony M. Vandersteen; Allan M. Lund; David J.P. Ferguson; Philip Sawle; Rebecca C. Pollitt; Susan E. Holder; Emma Wakeling; Neil Moat; F. Michael Pope

doi:10.1002/ajmg.a.36285

Four patients with Sillence type I osteogenesis imperfecta and mild bone fragility, complicated by left ventricular cardiac valvular disease and cardiac tissue fragility caused by type I collagen mutations

Anthony M. Vandersteen, Allan M. Lund, David J.P. Ferguson, Philip Sawle, Rebecca C. Pollitt, Susan E. Holder, Emma Wakeling, Neil Moat, F. Michael Pope

Research output: Contribution to journal › Article › peer-review

12 Citations (Scopus)

Original language	English
Pages (from-to)	386-391
Number of pages	6
Journal	American Journal of Medical Genetics, Part A
Volume	164
Issue number	2
DOIs	https://doi.org/10.1002/ajmg.a.36285
Publication status	Published - Feb 2014
Externally published	Yes

ASJC Scopus Subject Areas

Genetics(clinical)
Genetics

Keywords

Mitral valve
Osteogenesis imperfecta
Tissue fragility

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10.1002/ajmg.a.36285

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Vandersteen, A. M., Lund, A. M., Ferguson, D. J. P., Sawle, P., Pollitt, R. C., Holder, S. E., Wakeling, E., Moat, N., & Pope, F. M. (2014). Four patients with Sillence type I osteogenesis imperfecta and mild bone fragility, complicated by left ventricular cardiac valvular disease and cardiac tissue fragility caused by type I collagen mutations. American Journal of Medical Genetics, Part A, 164(2), 386-391. https://doi.org/10.1002/ajmg.a.36285

Four patients with Sillence type I osteogenesis imperfecta and mild bone fragility, complicated by left ventricular cardiac valvular disease and cardiac tissue fragility caused by type I collagen mutations. / Vandersteen, Anthony M.; Lund, Allan M.; Ferguson, David J.P. et al.
In: American Journal of Medical Genetics, Part A, Vol. 164, No. 2, 02.2014, p. 386-391.

Research output: Contribution to journal › Article › peer-review

Vandersteen, AM, Lund, AM, Ferguson, DJP, Sawle, P, Pollitt, RC, Holder, SE, Wakeling, E, Moat, N & Pope, FM 2014, 'Four patients with Sillence type I osteogenesis imperfecta and mild bone fragility, complicated by left ventricular cardiac valvular disease and cardiac tissue fragility caused by type I collagen mutations', American Journal of Medical Genetics, Part A, vol. 164, no. 2, pp. 386-391. https://doi.org/10.1002/ajmg.a.36285

Vandersteen AM, Lund AM, Ferguson DJP, Sawle P, Pollitt RC, Holder SE et al. Four patients with Sillence type I osteogenesis imperfecta and mild bone fragility, complicated by left ventricular cardiac valvular disease and cardiac tissue fragility caused by type I collagen mutations. American Journal of Medical Genetics, Part A. 2014 Feb;164(2):386-391. doi: 10.1002/ajmg.a.36285

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title = "Four patients with Sillence type I osteogenesis imperfecta and mild bone fragility, complicated by left ventricular cardiac valvular disease and cardiac tissue fragility caused by type I collagen mutations",

keywords = "Mitral valve, Osteogenesis imperfecta, Tissue fragility",

author = "Vandersteen, {Anthony M.} and Lund, {Allan M.} and Ferguson, {David J.P.} and Philip Sawle and Pollitt, {Rebecca C.} and Holder, {Susan E.} and Emma Wakeling and Neil Moat and Pope, {F. Michael}",

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Four patients with Sillence type I osteogenesis imperfecta and mild bone fragility, complicated by left ventricular cardiac valvular disease and cardiac tissue fragility caused by type I collagen mutations

ASJC Scopus Subject Areas

Keywords

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