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The characterization of Lowe Syndrome in a South African cohort
Oculocerebrorenal or Lowe Syndrome (OMIM #309000) is an X-linked recessive condition characterized by a triad of congenital cataracts, proximal renal tubular dysfunction, and variable central nervous system involvement. Nearly all affected boys will be hemizygous for a pathogenic variant in the OCRL...
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| Language: | English |
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Department of Clinical Laboratory Sciences
2021
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