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P35 Histiocytoid cardiomyopathy and microphthalmia with linear skin defects syndrome: Phenotypes linked by truncating variants in NDUFB11

Authors

  • Gillian Rea 1NIHR Cardiovascular Biomedical Research Unit at Royal Brompton & Harefield NHS Foundation Trust and Imperial College London, London SW3 6NP, UK2National Heart & Lung Institute, Imperial College London, London SW3 6NP, UK PubMed articlesGoogle scholar articles
  • James S Ware 1NIHR Cardiovascular Biomedical Research Unit at Royal Brompton & Harefield NHS Foundation Trust and Imperial College London, London SW3 6NP, UK2National Heart & Lung Institute, Imperial College London, London SW3 6NP, UK PubMed articlesGoogle scholar articles
  • Tessa Homfray 3Royal Brompton & Harefield NHS Foundation Trust, Sydney St, London SW3 6NP, UK PubMed articlesGoogle scholar articles
  • Jan Till 3Royal Brompton & Harefield NHS Foundation Trust, Sydney St, London SW3 6NP, UK PubMed articlesGoogle scholar articles
  • Ferran Roses-Noguer 3Royal Brompton & Harefield NHS Foundation Trust, Sydney St, London SW3 6NP, UK PubMed articlesGoogle scholar articles
  • Rachel Buchan 1NIHR Cardiovascular Biomedical Research Unit at Royal Brompton & Harefield NHS Foundation Trust and Imperial College London, London SW3 6NP, UK2National Heart & Lung Institute, Imperial College London, London SW3 6NP, UK PubMed articlesGoogle scholar articles
  • Sam Wilkinson 1NIHR Cardiovascular Biomedical Research Unit at Royal Brompton & Harefield NHS Foundation Trust and Imperial College London, London SW3 6NP, UK2National Heart & Lung Institute, Imperial College London, London SW3 6NP, UK PubMed articlesGoogle scholar articles
  • Alicja Wilk 1NIHR Cardiovascular Biomedical Research Unit at Royal Brompton & Harefield NHS Foundation Trust and Imperial College London, London SW3 6NP, UK2National Heart & Lung Institute, Imperial College London, London SW3 6NP, UK PubMed articlesGoogle scholar articles
  • Roddy Walsh 1NIHR Cardiovascular Biomedical Research Unit at Royal Brompton & Harefield NHS Foundation Trust and Imperial College London, London SW3 6NP, UK2National Heart & Lung Institute, Imperial College London, London SW3 6NP, UK PubMed articlesGoogle scholar articles
  • Shibu John 1NIHR Cardiovascular Biomedical Research Unit at Royal Brompton & Harefield NHS Foundation Trust and Imperial College London, London SW3 6NP, UK2National Heart & Lung Institute, Imperial College London, London SW3 6NP, UK PubMed articlesGoogle scholar articles
  • Shane McKee 4Department OfClinical Genetics, Belfast City Hospital, Belfast, BT9 7AB, UK PubMed articlesGoogle scholar articles
  • Fiona J Stewart 4Department OfClinical Genetics, Belfast City Hospital, Belfast, BT9 7AB, UK PubMed articlesGoogle scholar articles
  • Victoria Murday 5Department OfClinical Genetics, Laboratory Medicine, The Queen Elizabeth University Hospital, Glasgow, G51 4TF, UK PubMed articlesGoogle scholar articles
  • Robert W Taylor 6Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle Upon Tyne, NE2 4HH, UK PubMed articlesGoogle scholar articles
  • A John Baksi 3Royal Brompton & Harefield NHS Foundation Trust, Sydney St, London SW3 6NP, UK PubMed articlesGoogle scholar articles
  • Piers Daubeney 3Royal Brompton & Harefield NHS Foundation Trust, Sydney St, London SW3 6NP, UK PubMed articlesGoogle scholar articles
  • Sanjay Prasad 1NIHR Cardiovascular Biomedical Research Unit at Royal Brompton & Harefield NHS Foundation Trust and Imperial College London, London SW3 6NP, UK3Royal Brompton & Harefield NHS Foundation Trust, Sydney St, London SW3 6NP, UK PubMed articlesGoogle scholar articles
  • Paul JR Barton 1NIHR Cardiovascular Biomedical Research Unit at Royal Brompton & Harefield NHS Foundation Trust and Imperial College London, London SW3 6NP, UK2National Heart & Lung Institute, Imperial College London, London SW3 6NP, UK PubMed articlesGoogle scholar articles
  • Stuart A Cook 1NIHR Cardiovascular Biomedical Research Unit at Royal Brompton & Harefield NHS Foundation Trust and Imperial College London, London SW3 6NP, UK2National Heart & Lung Institute, Imperial College London, London SW3 6NP, UK7National Heart Centre Singapore, Singapore 169609, Singapore PubMed articlesGoogle scholar articles

Citation

Rea G, Ware JS, Homfray T, et al
P35 Histiocytoid cardiomyopathy and microphthalmia with linear skin defects syndrome: Phenotypes linked by truncating variants in NDUFB11

Publication history

  • First published March 2, 2016.
Online issue publication 
March 02, 2016

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