Mutation of HERC2 causes developmental delay with Angelman-like features

Gaurav V Harlalka; Emma L Baple; Harold Cross; Simone Kühnle; Monica Cubillos-Rojas; Konstantin Matentzoglu; Michael A Patton; Karin Wagner; Roselyn Coblentz; Debra L Ford; Deborah J G Mackay; Barry A Chioza; Martin Scheffner; Jose Luis Rosa; Andrew H Crosby

doi:10.1136/jmedgenet-2012-101367

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Developmental defects

Original article

Mutation of HERC2 causes developmental delay with Angelman-like features

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Gaurav V Harlalka Centre for Human Genetics, St. George's, University of London, London, UK PubMed articles Google scholar articles
Emma L Baple Centre for Human Genetics, St. George's, University of London, London, UK PubMed articles Google scholar articles
Harold Cross Department of Ophthalmology and Vision Science, College of Medicine, University of Arizona, Tucson, Arizona, USA PubMed articles Google scholar articles
Simone Kühnle Department of Biology and Konstanz Research School Chemical Biology, University of Konstanz, Konstanz, Germany PubMed articles Google scholar articles
Monica Cubillos-Rojas Departament de Ciències Fisiològiques II, IDIBELL, Campus de Bellvitge, Universitat de Barcelona, L'Hospitalet del Llobregat, Barcelona, Spain PubMed articles Google scholar articles
Konstantin Matentzoglu Department of Biology and Konstanz Research School Chemical Biology, University of Konstanz, Konstanz, Germany PubMed articles Google scholar articles
Michael A Patton Centre for Human Genetics, St. George's, University of London, London, UK PubMed articles Google scholar articles
Karin Wagner Windows of Hope Genetic Study, Holmes County, Ohio, USA PubMed articles Google scholar articles
Roselyn Coblentz Windows of Hope Genetic Study, Holmes County, Ohio, USA PubMed articles Google scholar articles
Debra L Ford Verde Valley Guidance Clinic, Cottonwood, Arizona, USA PubMed articles Google scholar articles
Deborah J G Mackay Division of Human Genetics, University of Southampton, Southampton, UK PubMed articles Google scholar articles
Barry A Chioza Centre for Human Genetics, St. George's, University of London, London, UK PubMed articles Google scholar articles
Martin Scheffner Department of Biology and Konstanz Research School Chemical Biology, University of Konstanz, Konstanz, Germany PubMed articles Google scholar articles
Jose Luis Rosa Departament de Ciències Fisiològiques II, IDIBELL, Campus de Bellvitge, Universitat de Barcelona, L'Hospitalet del Llobregat, Barcelona, Spain PubMed articles Google scholar articles
Andrew H Crosby Centre for Human Genetics, St. George's, University of London, London, UK PubMed articles Google scholar articles

Correspondence to Dr Andrew H Crosby, Centre for Human Genetics, St George's University of London, Cranmer Terrace, SW17 0RE London, UK; acrosby{at}sgul.ac.uk

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Citation

Harlalka GV, Baple EL, Cross H, et al

Mutation of HERC2 causes developmental delay with Angelman-like features

Journal of Medical Genetics 2013;50:65-73.

Publication history

Received October 16, 2012
Revised November 7, 2012
Accepted November 9, 2012
First published December 14, 2012.

Online issue publication

March 03, 2018

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