A Novel Homozygous Frameshift Variant in XYLT2 Causes Spondyloocular Syndrome in a Consanguineous Pakistani Family

Mehran Kausar, Elaine Guo Yan Chew, Hazrat Ullah, Mariam Anees, Chiea Chuen Khor, Ia Nee Foo, Outi Makitie, Saima Siddiqi

Research output: Contribution to journalArticleScientificpeer-review

Original languageEnglish
Article number144
JournalFrontiers in Genetics
Volume10
Number of pages7
ISSN1664-8021
DOIs
Publication statusPublished - 5 Mar 2019
MoE publication typeA1 Journal article-refereed

Fields of Science

  • spondyloocular syndrome (SOS)
  • whole-exome-sequencing (WES)
  • osteoporosis
  • xylosyltransferase II (XYLT2)
  • cataract
  • OCULAR SYNDROME
  • MUTATIONS
  • SERVER
  • GENE
  • 3111 Biomedicine
  • 1184 Genetics, developmental biology, physiology

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