Lowe syndrome with anal atresia: A possible variant of OCRL?

Sonmez F., Temocyn A., Ozkan S., Akcanal B., Karaman C., Turkmen M., ...More

PEDIATRICS INTERNATIONAL, vol.45, no.2, pp.201-204, 2003 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 45 Issue: 2
  • Publication Date: 2003
  • Doi Number: 10.1046/j.1442-200x.2003.01697.x
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.201-204
  • Keywords: anal atresia, congenital cataracts, Lowe syndrome (OCRL), phosphatidylinositol 4-5-bisphosphate 5-phosphatase, urinary N-acetyl beta-D galactosaminidase activity, OCULOCEREBRORENAL SYNDROME, MUTATIONS, GENE, DIAGNOSIS
  • Bezmialem Vakıf University Affiliated: No