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Novel compound heterozygous and homozygous variants of laminin subunit ß3 gene underlie non-Herlitz junctional epidermolysis bullosa in two paternal half-brothers from Saudi Arabia.
Al-Zahrani, Hams S; Al-Tala, Saeed; Mohamoud, Hussein S A; Al-Shehri, Bandar A; Al-Fadhel, Saeed; Al-Qurashi, Ali; Al-Bishri, Ahmad; Al-Aama, Jumana Y; Kang, Changsoo; Betz, Regina C; Jelani, Musharraf.
Afiliação
  • Al-Zahrani HS; Department of Genetic Medicine, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.
  • Al-Tala S; Princess Al-Jawhara Albrahim Center of Excellence in Research of Hereditary Disorders|, King Abdulaziz University, Jeddah, Saudi Arabia.
  • Mohamoud HSA; Department of Pediatrics, Genetic Unit, Armed Forces Hospital, Khamis Mushayt, Saudi Arabia.
  • Al-Shehri BA; St George's Hospital NHS Foundation Trust, University of London, London, UK.
  • Al-Fadhel S; Department of Genetic Medicine, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.
  • Al-Qurashi A; Pediatric Endocrinology, Armed Forces Hospital, Khamis Mushayt, Saudi Arabia.
  • Al-Bishri A; Pediatric Endocrinology, Armed Forces Hospital, Khamis Mushayt, Saudi Arabia.
  • Al-Aama JY; Pediatric Endocrinology, Armed Forces Hospital, Khamis Mushayt, Saudi Arabia.
  • Kang C; Department of Genetic Medicine, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.
  • Betz RC; Princess Al-Jawhara Albrahim Center of Excellence in Research of Hereditary Disorders|, King Abdulaziz University, Jeddah, Saudi Arabia.
  • Jelani M; Department of Biology, Sungshin Women's University, Seoul, Republic of Korea.
Congenit Anom (Kyoto) ; 59(3): 99-101, 2019 May.
Article em En | MEDLINE | ID: mdl-29900604
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Moléculas de Adesão Celular / Epidermólise Bolhosa Juncional / Mutação Tipo de estudo: Diagnostic_studies Limite: Child / Child, preschool / Humans / Male País/Região como assunto: Asia Idioma: En Revista: Congenit Anom (Kyoto) Ano de publicação: 2019 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Moléculas de Adesão Celular / Epidermólise Bolhosa Juncional / Mutação Tipo de estudo: Diagnostic_studies Limite: Child / Child, preschool / Humans / Male País/Região como assunto: Asia Idioma: En Revista: Congenit Anom (Kyoto) Ano de publicação: 2019 Tipo de documento: Article