The oculocerebrorenal syndrome of Lowe (OCRL) is a rare X-linked disorder with a severe phenotype characterized by congenital cataracts, renal tubular dysfunction and neurological deficits. The gene has been characterized and mutations have been identified in patients. Owing to the allelic heterogen
Antenatal diagnosis of Lowe syndrome
β Scribed by Sidharth Kumar Sethi; Joel Lunardi; Madhulika Kabra; Deepika Deka; Arvind Bagga
- Publisher
- Springer
- Year
- 2010
- Tongue
- English
- Weight
- 207 KB
- Volume
- 14
- Category
- Article
- ISSN
- 1342-1751
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Prenatal screening of oculo-cerebro-renal syndrome of Lowe (OCRL; McKusick 309000) was performed using cultured amniocytes. Following identification of defective mRNA expression in the OCRL1 gene of the proband's fibroblasts, the mRNA size and quantity of the cultured amniocytes were compared. Based
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