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    • Keywords


      Wiedemann–Steiner syndrome; whole exome sequencing; hairy elbows; hypertrichosis cubiti; 𝑀𝐿𝐿 gene; KMT2A; developmental delay; children.

    • Author Affiliations


      Dora Steel1 2 Vincenzo Salpietro2 3 Rahul Phadke4 Matthew Pitt5 6 Giulia Gentile7 Ahmed Massoud5 8 Leigh Batten9 Anu Bashamboo10 Ken Mcelreavey10 Anand Saggar5 11 Maria Kinali2 5

      1. Department of Paediatrics Chelsea and Westminster NHS Foundation Trust, London SW10 9NH, United Kingdom
      2. Department of Paediatric Neurology, Chelsea and Westminster NHS Foundation Trust, London SW10 9NH, United Kingdom
      3. Department of Paediatrics, University of Messina, Messina, 98123, Italy
      4. National Hospital for Neurology and Neurosurgery, London, WC1N 3BG, United Kingdom
      5. The Portland Hospital for Women and Children, London, W1W 5AH, United Kingdom
      6. Great Ormond Street Hospital for Children NHS Foundation Trust, London, WC1N 3JH, United Kingdom
      7. Institute of Neurological Sciences, National Research Council, Catania, 95125, Italy
      8. Department of Paediatrics, Northwick Park Hospital NHS Foundation Trust, London, HA1 3UJ, United Kingdom
      9. The Doctors Laboratory, London, W1T 4EU, United Kingdom
      10. Human Developmental Genetics, Institute Pasteur, Paris, 75015, France
      11. St George’s Hospital, NHS Foundation Trust, London, SW17 0QT, United Kingdom
    • Dates

  • Journal of Genetics | News

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      Posted on July 25, 2019

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