Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders

Eduardo Calpena; Maud Wurmser; Simon J McGowan; Rodrigo Atique; Débora R Bertola; Michael L Cunningham; Jonas A Gustafson; David Johnson; Jenny E V Morton; Maria Rita Passos-Bueno; Andrew T Timberlake; Richard P Lifton; Steven A Wall; Stephen R F Twigg; Pascal Maire; Andrew O M Wilkie

doi:10.1136/jmedgenet-2020-107459

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Genotype-phenotype correlations

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Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders

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Eduardo Calpena Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK PubMed articles Google scholar articles
Maud Wurmser Institut Cochin, INSERM, CNRS, Université de Paris, Paris, France PubMed articles Google scholar articles
Simon J McGowan Centre for Computational Biology, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK PubMed articles Google scholar articles
Rodrigo Atique Centro de Estudos do Genoma Humano, Universidade de São Paulo, São Paulo, Brazil PubMed articles Google scholar articles
Débora R Bertola Unidade de Genética Clínica, Instituto da Criança do Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil Instituto de Biociências, Universidade de São Paulo, São Paulo, São Paulo, Brazil PubMed articles Google scholar articles
Michael L Cunningham Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, Washington, USA Seattle Children's Craniofacial Center, Seattle Children's Hospital, and Department of Pediatrics, Division of Craniofacial Medicine, University of Washington, Seattle, Washington, USA PubMed articles Google scholar articles
Jonas A Gustafson Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, Washington, USA PubMed articles Google scholar articles
David Johnson Craniofacial Unit, Oxford University Hospitals NHS Foundation Trust, Oxford, UK PubMed articles Google scholar articles
Jenny E V Morton West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women’s and Children’s Hospitals NHS Foundation Trust, Birmingham, UK PubMed articles Google scholar articles
Maria Rita Passos-Bueno Centro de Estudos do Genoma Humano, Universidade de São Paulo, São Paulo, Brazil PubMed articles Google scholar articles
Andrew T Timberlake Hansjörg Wyss Department of Plastic Surgery, New York University Langone Medical Center, New York, New York, USA PubMed articles Google scholar articles
Richard P Lifton Rockefeller University, New York, New York, USA PubMed articles Google scholar articles
Steven A Wall Craniofacial Unit, Oxford University Hospitals NHS Foundation Trust, Oxford, UK PubMed articles Google scholar articles
Stephen R F Twigg Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK PubMed articles Google scholar articles
Pascal Maire Institut Cochin, INSERM, CNRS, Université de Paris, Paris, France PubMed articles Google scholar articles
Andrew O M Wilkie Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK Craniofacial Unit, Oxford University Hospitals NHS Foundation Trust, Oxford, UK PubMed articles Google scholar articles

Correspondence to Prof Andrew O M Wilkie, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford OX3 9DS, Oxfordshire, UK; andrew.wilkie{at}imm.ox.ac.uk

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Calpena E, Wurmser M, McGowan SJ, et al

Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders

Journal of Medical Genetics 2022;59:165-169.

Publication history

Received September 17, 2020
Revised December 7, 2020
Accepted December 9, 2020
First published January 12, 2021.

Online issue publication

January 21, 2022

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© Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY. Published by BMJ. https://creativecommons.org/licenses/by/4.0/This is an open access article distributed in accordance with the Creative Commons Attribution 4.0 Unported (CC BY 4.0) license, which permits others to copy, redistribute, remix, transform and build upon this work for any purpose, provided the original work is properly cited, a link to the licence is given, and indication of whether changes were made. See: https://creativecommons.org/licenses/by/4.0/.

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