Click here to view fulltext PDF

Permanent link:
https://www.ias.ac.in/article/fulltext/jgen/094/04/0755-0758

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

Dora Steel^{1 2} Vincenzo Salpietro^{2 3} Rahul Phadke⁴ Matthew Pitt^{5 6} Giulia Gentile⁷ Ahmed Massoud^{5 8} Leigh Batten⁹ Anu Bashamboo¹⁰ Ken Mcelreavey¹⁰ Anand Saggar^{5 11} Maria Kinali^{2 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

Published

December 2015

Manuscript received

22 March 2015

Accepted

5 May 2015

Manuscript revised

26 April 2015

Unedited version published online

6 May 2015

Final version published online

13 November 2015