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A novel homozygous variant in the GLI1 underlies postaxial polydactyly in a large consanguineous family with intra familial variable phenotypes.
Bakar, Abu; Ullah, Asmat; Bibi, Nousheen; Khan, Hammal; Rahman, Ateeq Ur; Ahmad, Wasim; Khan, Bushra.
Affiliation
  • Bakar A; Department of Biochemistry, Abdul Wali Khan University Mardan, Mardan, Pakistan.
  • Ullah A; Department of Biochemistry, Quaid-i-Azam University, Islamabad, Pakistan; Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
  • Bibi N; Department of Bioinformatics, Shaheed Benazir Bhutto Women University, Peshawar, Pakistan.
  • Khan H; Department of Biochemistry, Quaid-i-Azam University, Islamabad, Pakistan.
  • Rahman AU; Department of Biochemistry, Abdul Wali Khan University Mardan, Mardan, Pakistan.
  • Ahmad W; Department of Biochemistry, Quaid-i-Azam University, Islamabad, Pakistan.
  • Khan B; Department of Biochemistry, Abdul Wali Khan University Mardan, Mardan, Pakistan. Electronic address: bushrakhan@awkum.edu.pk.
Eur J Med Genet ; 65(10): 104599, 2022 Oct.
Article in En | MEDLINE | ID: mdl-36067927

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Polydactyly Type of study: Prognostic_studies Limits: Humans Language: En Journal: Eur J Med Genet Journal subject: GENETICA MEDICA Year: 2022 Document type: Article Affiliation country: Pakistan Country of publication: Netherlands

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Polydactyly Type of study: Prognostic_studies Limits: Humans Language: En Journal: Eur J Med Genet Journal subject: GENETICA MEDICA Year: 2022 Document type: Article Affiliation country: Pakistan Country of publication: Netherlands