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Identification of novel homozygous variants in FOXE3 and AP4M1 underlying congenital syndromic anophthalmia and microphthalmia.
Akbar, Warda; Ullah, Asmat; Haider, Nighat; Suleman, Sufyan; Khan, Fati Ullah; Shah, Abid Ali; Sikandar, Muhammad Atif; Basit, Sulman; Ahmad, Wasim.
Afiliação
  • Akbar W; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
  • Ullah A; Faculty of Health and Medical Sciences, Novo Nordisk Foundation Center for Basic Metabolic Research, University of Copenhagen, Copenhagen, Denmark.
  • Haider N; Shaheed Zulfiqar Ali Bhutto Medical University, Department of Pediatrics, Pakistan Institute of Medical Sciences, Islamabad, Pakistan.
  • Suleman S; Faculty of Health and Medical Sciences, Novo Nordisk Foundation Center for Basic Metabolic Research, University of Copenhagen, Copenhagen, Denmark.
  • Khan FU; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
  • Shah AA; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
  • Sikandar MA; Department of Zoology, University of Lakki Marwat, Lakki Marwat, Pakistan.
  • Basit S; College of Medicine, Taibah University, Medina, Saudi Arabia.
  • Ahmad W; Center for Genetics and Inherited Diseases, Taibah University, Medina, Saudi Arabia.
J Gene Med ; 26(1): e3601, 2024 Jan.
Article em En | MEDLINE | ID: mdl-37758467
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anoftalmia / Microftalmia Tipo de estudo: Diagnostic_studies / Guideline / Prognostic_studies Limite: Humans Idioma: En Revista: J Gene Med Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Paquistão
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anoftalmia / Microftalmia Tipo de estudo: Diagnostic_studies / Guideline / Prognostic_studies Limite: Humans Idioma: En Revista: J Gene Med Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Paquistão