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Original article
AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis

Authors

  • Gaia Andreoletti Human Genetics & Genomic Medicine, University of Southampton, Duthie Building (Mailpoint 808), Southampton General Hospital, Southampton, UK PubMed articlesGoogle scholar articles
  • Eleanor G Seaby Human Genetics & Genomic Medicine, University of Southampton, Duthie Building (Mailpoint 808), Southampton General Hospital, Southampton, UK PubMed articlesGoogle scholar articles
  • Jennifer M Dewing Centre for Human Development, Stem Cells and Regeneration HDH, University of Southampton, IDS Building, Southampton General Hospital, Southampton, UK PubMed articlesGoogle scholar articles
  • Ita O'Kelly Centre for Human Development, Stem Cells and Regeneration HDH, University of Southampton, IDS Building, Southampton General Hospital, Southampton, UK PubMed articlesGoogle scholar articles
  • Katherine Lachlan Human Genetics & Genomic Medicine, University of Southampton, Duthie Building (Mailpoint 808), Southampton General Hospital, Southampton, UK Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Princess Anne Hospital, Southampton, UK PubMed articlesGoogle scholar articles
  • Rodney D Gilbert Wessex Regional Paediatric Nephro-Urology Service, Southampton Children's Hospital, Southampton, UK PubMed articlesGoogle scholar articles
  • Sarah Ennis Human Genetics & Genomic Medicine, University of Southampton, Duthie Building (Mailpoint 808), Southampton General Hospital, Southampton, UK PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Rodney D Gilbert, University Hospital Southampton NHS Foundation Trust Honorary Senior Lecturer, University of Southampton, Southampton SO16 6YD, UK; Rodney.Gilbert{at}uhs.nhs.uk
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Citation

Andreoletti G, Seaby EG, Dewing JM, et al
AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis
Journal of Medical Genetics 2017;54:269-277.

Publication history

  • Received June 14, 2016
  • Revised August 3, 2016
  • Accepted September 26, 2016
  • First published November 3, 2016.
Online issue publication 
March 22, 2017

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Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/ This is an Open Access article distributed in accordance with the terms of the Creative Commons Attribution (CC BY 4.0) license, which permits others to distribute, remix, adapt and build upon this work, for commercial use, provided the original work is properly cited. See: http://creativecommons.org/licenses/by/4.0/