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A Novel Homozygous Frameshift Variant in XYLT2 Causes Spondyloocular Syndrome in a Consanguineous Pakistani Family.
Kausar, Mehran; Chew, Elaine Guo Yan; Ullah, Hazrat; Anees, Mariam; Khor, Chiea Chuen; Foo, Jia Nee; Makitie, Outi; Siddiqi, Saima.
Afiliação
  • Kausar M; Department of Biochemistry, Quaid-i-Azam University, Islamabad, Pakistan.
  • Chew EGY; Institute of Biomedical and Genetic Engineering (IBGE), Islamabad, Pakistan.
  • Ullah H; Folkhälsan Institute of Genetics, Helsinki, Finland.
  • Anees M; Lee Kong Chian School of Medicine, Nanyang Technological University, Singapore, Singapore.
  • Khor CC; Human Genetics, Genome Institute of Singapore, A∗STAR, Singapore, Singapore.
  • Foo JN; National Institute of Rehabilitation Medicine (NIRM), Islamabad, Pakistan.
  • Makitie O; Department of Biochemistry, Quaid-i-Azam University, Islamabad, Pakistan.
  • Siddiqi S; Human Genetics, Genome Institute of Singapore, A∗STAR, Singapore, Singapore.
Front Genet ; 10: 144, 2019.
Article em En | MEDLINE | ID: mdl-30891060
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Etiology_studies Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Etiology_studies Idioma: En Ano de publicação: 2019 Tipo de documento: Article