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Rebecca Pollitt

Explore the profile of Rebecca Pollitt including associated specialties, affiliations and a list of published articles. Areas
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Recent Articles
1.
Angwin C, Brady A, Colombi M, Ferguson D, Pollitt R, Pope F, et al.
Genes (Basel) . 2019 Oct; 10(10). PMID: 31569816
Two probands are reported with pathogenic and likely pathogenic variants (frameshift and splice site) in whom no collagen flowers have been identified with transmission electron microscopy (TEM). One proband fulfils...
2.
Scollo P, Snead M, Richards A, Pollitt R, DeVile C
BMC Med Genet . 2018 Jan; 19(1):8. PMID: 29329516
Background: Osteogenesis imperfecta (OI) is a rare primarily autosomal dominant condition in which the connective tissues of bones, ligaments and sclerae do not form properly. Typically, mutations in COL1A1 and...
3.
McVey L, Mason A, Pollitt R, Ahmed S, Kinning E
Clin Dysmorphol . 2017 Sep; 26(4):243-246. PMID: 28872564
No abstract available.
4.
Parker M, Deshpande C, Rankin J, Wilson L, Balasubramanian M, Hall C, et al.
Am J Med Genet A . 2011 May; 155A(6):1414-8. PMID: 21567925
Osteogenesis imperfecta (OI) is a heterogeneous group of inherited disorders of bone formation, resulting in low bone mass and an increased propensity to fracture. It exhibits a broad spectrum of...
5.
Pollitt R, McMahon R, Nunn J, Bamford R, Afifi A, Bishop N, et al.
Hum Mutat . 2006 Jun; 27(7):716. PMID: 16786509
Osteogenesis Imperfecta (OI) is a heterogeneous group of inherited disorders characterized by increased bone fragility, with clinical severity ranging from mild to lethal. To date, seven types of OI have...