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Homozygous single base deletion in TUSC3 causes intellectual disability with developmental delay in an Omani family.
Al-Amri, Ahmed; Saegh, Abeer Al; Al-Mamari, Watfa; El-Asrag, Mohammed E; Ivorra, Jose L; Cardno, Alastair G; Inglehearn, Chris F; Clapcote, Steven J; Ali, Manir.
Afiliação
  • Al-Amri A; Section of Ophthalmology and Neuroscience, Leeds Institute of Biomedical and Clinical Sciences, University of Leeds, United Kingdom.
  • Saegh AA; School of Biomedical Sciences, University of Leeds, United Kingdom.
  • Al-Mamari W; National Genetic Centre, Directorate General of Royal Hospital, Ministry of Health, Muscat, Oman.
  • El-Asrag ME; Genetic and Developmental Medicine Clinic, Genetics Department, Sultan Qaboos University Hospital, Muscat, Oman.
  • Ivorra JL; Developmental Pediatric Unit, Child Health Department, Sultan Qaboos University Hospital, Muscat, Oman.
  • Cardno AG; Section of Ophthalmology and Neuroscience, Leeds Institute of Biomedical and Clinical Sciences, University of Leeds, United Kingdom.
  • Inglehearn CF; Department of Zoology, Faculty of Science, Benha University, Benha, Egypt.
  • Clapcote SJ; Section of Ophthalmology and Neuroscience, Leeds Institute of Biomedical and Clinical Sciences, University of Leeds, United Kingdom.
  • Ali M; School of Biomedical Sciences, University of Leeds, United Kingdom.
Am J Med Genet A ; 170(7): 1826-31, 2016 07.
Article em En | MEDLINE | ID: mdl-27148795
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Deficiências do Desenvolvimento / Proteínas Supressoras de Tumor / Proteínas de Membrana / Deficiência Intelectual Idioma: En Ano de publicação: 2016 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Deficiências do Desenvolvimento / Proteínas Supressoras de Tumor / Proteínas de Membrana / Deficiência Intelectual Idioma: En Ano de publicação: 2016 Tipo de documento: Article