A Novel Autosomal Recessive GJA1 Missense Mutation Linked to Craniometaphyseal Dysplasia

• Ying Hu,

  Affiliation Department of Reconstructive Sciences, Center for Regenerative Medicine and Developmental Biology, University of Connecticut Health Center, Farmington, Connecticut, United States of America

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• I-Ping Chen,

  Affiliation Department of Oral Health and Diagnostic Sciences, University of Connecticut Health Center, Farmington, Connecticut, United States of America

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• Salome de Almeida,

  Affiliation Medical Genetics Service, Centro Hospitalar de Lisboa, Central, Portugal

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• Valdenize Tiziani,

  Affiliation Universidade Estadual Vale do Acaraú, Brazil

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• Cassio M. Raposo Do Amaral,

  Affiliation Instituto de Cirurgia Plástica Cranio-facial - SOBRAPAR, Campinas, Brazil

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• Kalpana Gowrishankar,

  Affiliation Department of Medical Genetics, Kanchi Kamakoti Childs Trust Hospital, Chennai, Tamil Nadu, India

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• Maria Rita Passos-Bueno,

  Affiliation Instituto de Biociencias, Universidade de Sao Paulo, São Paulo, Brazil

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• Ernst J. Reichenberger

  * E-mail: reichenberger@uchc.edu

  Affiliation Department of Reconstructive Sciences, Center for Regenerative Medicine and Developmental Biology, University of Connecticut Health Center, Farmington, Connecticut, United States of America

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