List of works - Rebecca C Pollitt

A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history.

scientific article published on 15 June 2017

A combined vascular surgical and clinical genetics approach to diffuse aneurysmal disease

scientific article published on July 2015

A novel COL1A1 mutation causing a variant of osteogenesis imperfecta

scientific article published in October 2017

A novel homozygous variant in SERPINH1 associated with a severe, lethal presentation of osteogenesis imperfecta with hydranencephaly

scientific article published on 24 September 2016

Bilateral giant retinal tears in Osteogenesis Imperfecta

scientific article published on 12 January 2018

CRTAP mutation in a patient with Cole-Carpenter syndrome

scientific article published on 21 January 2015

Clinical, structural, biochemical and X-ray crystallographic correlates of pathogenicity for variants in the C-propeptide region of the COL3A1 gene.

scientific article published on 5 April 2015

Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta.

scientific article published on 24 October 2016

Diagnostic conundrums in antenatal presentation of a skeletal dysplasia with description of a heterozygous C-propeptide mutation in COL1A1 associated with a severe presentation of osteogenesis imperfecta.

scientific article published on 23 August 2016

Femoral artery dissection in vascular type Ehlers-Danlos syndrome; leave well alone?

scientific article published on 05 January 2012

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.

scientific article

Identification of a novel heterozygous mutation in exon 50 of the COL1A1 gene causing osteogenesis imperfecta

scientific article published on July 2013

Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV

scientific article published on 01 July 2006

Novel PLS3 variants in X-linked osteoporosis: Exploring bone material properties

scientific article published on 07 May 2018

P4HB recurrent missense mutation causing Cole-Carpenter syndrome.

scientific article published on 20 December 2017

Palmoplantar contractures in childhood: a rare complication of vascular Ehlers-Danlos syndrome ⬇️

scientific article published on May 15, 2013

Type 1 collagenopathy presenting with a Russell-Silver phenotype

scientific article published on 12 May 2011

List of works by Rebecca C Pollitt