BCR/ABL genes and leukemic phenotype: from molecular mechanisms to clinical correlations

From lowe syndrome to Dent disease: corr

From lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes

✍ Haifa Hichri; John Rendu; Nicole Monnier; Charles Coutton; Olivier Dorseuil; Ros 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 320 KB

Mutations of OCRL1 are associated with both the Lowe oculocerebrorenal syndrome, a multisystemic and Dent-2 disease, a renal tubulopathy. We have identified a mutation in 130 Lowe syndrome families and 6 affected by Dent-2 disease with 51 of these mutations being novel. No founding effect was eviden