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Phenotypic spectrum of autosomal recessive Keratitis-Ichthyosis-Deafness Syndrome (KIDAR) due to mutations in AP1B1.
Faghihi, Fatemeh; Khamirani, Hossein Jafari; Zoghi, Sina; Kamal, Neda; Yeganeh, Babak Shirazi; Dianatpour, Mehdi; Bagher Tabei, Seyed Mohammad; Dastgheib, Seyed Alireza.
Afiliação
  • Faghihi F; Department of Biology, Central Tehran Branch, Islamic Azad University, Tehran, Iran.
  • Khamirani HJ; Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran; Comprehensive Medical Genetic Center, Shiraz University of Medical Sciences, Shiraz, Iran.
  • Zoghi S; Student Research Committee, Shiraz University of Medical Sciences, Shiraz, Iran.
  • Kamal N; Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran.
  • Yeganeh BS; Department of Pathology, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran.
  • Dianatpour M; Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran; Stem Cells Technology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.
  • Bagher Tabei SM; Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran; Maternal-Fetal Medicine Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.
  • Dastgheib SA; Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran. Electronic address: dastgheib@sums.ac.ir.
Eur J Med Genet ; 65(3): 104449, 2022 Mar.
Article em En | MEDLINE | ID: mdl-35144013
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Surdez / Ictiose / Ceratite 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: Surdez / Ictiose / Ceratite Idioma: En Ano de publicação: 2022 Tipo de documento: Article