Delineating the expanding phenotype associated with SCAPER gene mutation

NIHR Bioresource Rare Diseases Consortium

Research output: Contribution to journalLetterpeer-review

3 Scopus citations
Original languageEnglish (US)
Pages (from-to)1665-1671
Number of pages7
JournalAmerican Journal of Medical Genetics, Part A
Volume179
Issue number8
DOIs
StatePublished - Aug 2019

Bibliographical note

Funding Information:
First and foremost, we would like to thank the patients and their families for their participation in and support of this study. We thank Kirsty McWalter at GeneDx (GeneMatcher and Matchmaker Exchange). This work was supported by the Medical Research Council (MRC Grants G1001931 to ELB and G1002279 to AHC). This paper presents independent research funded by the National Institute for Health Research (NIHR) through the NIHR BioResource – Rare Diseases project [grant number RG65966] and NIHR Academic Clinical Fellowship to J.F.) The views expressed are those of the author(s) and not necessarily those of the NHS, the NIHR or the Department of Health and Social Care. Fight For Sight (Grants 1511/1512 to A. L., 2027 to E. L. B. and A. H. C., and Early Career Investigator award to G. A.), Newlife Foundation for Disabled Children (grant to E. L. B. and A. H. C.). Further support was provided by NIHR Biomedical Centre of UCL Institute of Ophthalmology and Moorfields Eye Hospital, National Health Service Foundation Trust, and UCL Institute of Ophthalmology, Moorfields Eye Hospital Special Trustees, Moorfields Eye Charity, The Foundation Fighting Blindness (United States), and Retina UK. S. L. is supported by the University of Exeter Vice Chancellor Scholarship and F. L. R. is supported by Cambridge NIHR Biomedical Research Centre and National Centre for the Replacement Refinement and Reduction of Animals in Research (NC3Rs).

Funding Information:
Fight for Sight UK, Grant/Award Numbers: 1511/1512 to AL, 2027 to ELB AHC, Early Career Investigator award to GA; Foundation Fighting Blindness; Medical Research Council, Grant/Award Numbers: G1001931 to ELB, G1002279 to AHC; Moorfields Eye Charity; National Centre for the Replacement, Refinement and Reduction of Animals in Research, Grant/Award Number: to AL; National Institute for Health Research, Grant/Award Numbers: Academic Clinical Fellowship to JF, NIHR BioResource - Rare Diseases project RG65966; Newlife Foundation for Disabled Children, Grant/Award Number: to AC EB; Retina UK; University of Exeter, Grant/Award Number: Vice Chancellor Scholarship to SL

Funding Information:
First and foremost, we would like to thank the patients and their families for their participation in and support of this study. We thank Kirsty McWalter at GeneDx (GeneMatcher and Matchmaker Exchange). This work was supported by the Medical Research Council (MRC Grants G1001931 to ELB and G1002279 to AHC). This paper presents independent research funded by the National Institute for Health Research (NIHR) through the NIHR BioResource ? Rare Diseases project [grant number RG65966] and NIHR Academic Clinical Fellowship to J.F.) The views expressed are those of the author(s) and not necessarily those of the NHS, the NIHR or the Department of Health and Social Care. Fight For Sight (Grants 1511/1512 to A. L., 2027 to E. L. B. and A. H. C., and Early Career Investigator award to G. A.), Newlife Foundation for Disabled Children (grant to E. L. B. and A. H. C.). Further support was provided by NIHR Biomedical Centre of UCL Institute of Ophthalmology and Moorfields Eye Hospital, National Health Service Foundation Trust, and UCL Institute of Ophthalmology, Moorfields Eye Hospital Special Trustees, Moorfields Eye Charity, The Foundation Fighting Blindness (United States), and Retina UK. S. L. is supported by the University of Exeter Vice Chancellor Scholarship and F. L. R. is supported by Cambridge NIHR Biomedical Research Centre and National Centre for the Replacement Refinement and Reduction of Animals in Research (NC3Rs).

Keywords

  • Brachydactyly
  • CCNA2–CDK2
  • Intellectual disability
  • Retinitis pigmentosa
  • SCAPER

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