Arquivo
A NOVEL AUTOSOMAL RECESSIVE GJA1 MISSENSE MUTATION LINKED TO CRANIOMETAPHYSEAL DYSPLASIA
Ying Hu1, I-Ping Chen2, Salome de Almeida3, Valdenize Tiziani4, Cassio M. Raposo Do Amaral5, Kalpana Gowrishankar6, Maria Rita Passos-Bueno7, Ernst J. Reichenberger1*