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Microphthalmia, Linear Skin Defects, Callosal Agenesis, and Cleft Palate in a Patient with Deletion at Xp22.3p22.2.
Vendramini-Pittoli, Siulan; Candido-Souza, Rosana Maria; Quiezi, Rodrigo Gonçalves; Zechi-Ceide, Roseli Maria; Kokitsu-Nakata, Nancy Mizue; Jehee, Fernanda Sarquis; Ribeiro-Bicudo, Lucilene Arilho; FitzPatrick, David R; Guion-Almeida, Maria Leine; Richieri-Costa, Antonio.
Afiliação
  • Vendramini-Pittoli S; Department of Clinical Genetics, Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, Bauru, São Paulo, Brazil.
  • Candido-Souza RM; Department of Clinical Genetics, Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, Bauru, São Paulo, Brazil.
  • Quiezi RG; Medical Research Council (MRC) Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, Edinburgh, United Kingdom.
  • Zechi-Ceide RM; Department of Clinical Genetics, Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, Bauru, São Paulo, Brazil.
  • Kokitsu-Nakata NM; Department of Clinical Genetics, Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, Bauru, São Paulo, Brazil.
  • Jehee FS; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.
  • Ribeiro-Bicudo LA; Department of Genetics, Institute of Biosciences, Federal University of Goias, Goiânia, Goiás, Brazil.
  • FitzPatrick DR; Medical Research Council (MRC) Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, Edinburgh, United Kingdom.
  • Guion-Almeida ML; Department of Clinical Genetics, Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, Bauru, São Paulo, Brazil.
  • Richieri-Costa A; Department of Clinical Genetics, Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, Bauru, São Paulo, Brazil.
J Pediatr Genet ; 9(4): 258-262, 2020 Dec.
Article em En | MEDLINE | ID: mdl-32765930

Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2020 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2020 Tipo de documento: Article