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Duane retraction syndrome characterized by inner ear agenesis and neurodevelopmental phenotype in an Italian family with a variant in MAFB.
Pascolini, Giulia; Passarelli, Chiara; Lipari, Martina; Chandramouli, Balasubramanian; Chillemi, Giovanni; Di Giosaffatte, Niccolo'; Novelli, Antonio; Grammatico, Paola.
Afiliação
  • Pascolini G; Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.
  • Passarelli C; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Lipari M; Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.
  • Chandramouli B; Super Computing Applications and Innovation, CINECA, Bologna, Italy.
  • Chillemi G; DIBAF, Universita' della Tuscia, Viterbo, Italy.
  • Di Giosaffatte N; Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.
  • Novelli A; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Grammatico P; Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.
Clin Genet ; 101(3): 377-378, 2022 03.
Article em En | MEDLINE | ID: mdl-34964110
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndrome da Retração Ocular / Orelha Interna Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndrome da Retração Ocular / Orelha Interna Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article