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Autosomal recessive congenital ichthyosis: Genomic landscape and phenotypic spectrum in a cohort of 125 consanguineous families.
Youssefian, Leila; Vahidnezhad, Hassan; Saeidian, Amir Hossein; Touati, Andrew; Sotoudeh, Soheila; Mahmoudi, Hamidreza; Mansouri, Parvin; Daneshpazhooh, Maryam; Aghazadeh, Nessa; Hesari, Kambiz Kamyab; Basiri, Mohammadreza; Londin, Eric; Kumar, Gaurav; Zeinali, Sirous; Fortina, Paolo; Uitto, Jouni.
Afiliação
  • Youssefian L; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, PA, USA.
  • Vahidnezhad H; Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
  • Saeidian AH; Genetics, Genomics and Cancer Biology PhD Program, Thomas Jefferson University, Philadelphia, PA, USA.
  • Touati A; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, PA, USA.
  • Sotoudeh S; Biotechnology Research Center, Department of Molecular Medicine, Pasteur Institute of Iran, Tehran, Iran.
  • Mahmoudi H; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, PA, USA.
  • Mansouri P; Genetics, Genomics and Cancer Biology PhD Program, Thomas Jefferson University, Philadelphia, PA, USA.
  • Daneshpazhooh M; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, PA, USA.
  • Aghazadeh N; Drexel University College of Medicine, Philadelphia, PA, USA.
  • Hesari KK; Department of Dermatology, Children's Medical Center, Pediatric Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.
  • Basiri M; Department of Dermatology, Razi Hospital, Tehran University of Medical Sciences, Tehran, Iran.
  • Londin E; Skin and Stem Cell Research Center, Tehran University of Medical Sciences, Tehran, Iran.
  • Kumar G; Department of Dermatology, Razi Hospital, Tehran University of Medical Sciences, Tehran, Iran.
  • Zeinali S; Department of Dermatology, Razi Hospital, Tehran University of Medical Sciences, Tehran, Iran.
  • Fortina P; Pathology Department, Razi Hospital, Tehran University of Medical Sciences, Tehran, Iran.
  • Uitto J; School of Medicine, Shahid Sadoughi University of Medical Sciences and Health Sciences, Yazd, Iran.
Hum Mutat ; 40(3): 288-298, 2019 03.
Article em En | MEDLINE | ID: mdl-30578701
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Genoma Humano / Ictiose Lamelar / Consanguinidade / Genes Recessivos Tipo de estudo: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Male Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Genoma Humano / Ictiose Lamelar / Consanguinidade / Genes Recessivos Tipo de estudo: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Male Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Estados Unidos