https://www.selleckchem.com/pr....oducts/mitapivat.htm
Genetically determined prelingual hearing loss (HL) may occur in an isolated or syndromic form. The aim of the study was to unravel the genetic cause of medical problems in a 21-year-old woman, whose phenotypic presentation extended beyond Stickler syndrome and included enlarged vestibular aqueduct (EVA) and persistent microhematuria. After sequencing of clinical exome, a known de novo COL2A1 pathogenic variant (c.1833+1GA, p.?) causative for Stickler syndrome and one paternally inherited pathogenic change in COL4A5 (c.1871GA,
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