Search Results - ian krantz

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Diagnostic Test for Cornelia de Lange Syndrome (CdLS)
Identify Patients and Carriers of CdLS Market NeedThe Cornelia de Lange syndrome (CdLS) is a dominantly inherited multisystem developmental disorder that includes growth and cognitive retardation, upper extremity abnormalities, gastroesophageal dysfunction, cardiac ophthalmologic genitourinary anomalies, hirsutism and characteristic facial features...
Published: 5/9/2017   |   Inventor(s): Ian Krantz
Keywords(s): Cornelia de Lange Syndrome (CdLS)
Category(s): Diagnostic
Diagnostic Test for Alagille Syndrome
Identifies Jagged 1 mutations and intragenic alterations Market NeedAlagille syndrome (AGS) is a highly variable, multi-system, autosomal dominant disorder that affects at least 1 in 70,000 newborns. It is often associated with neonatal jaundice and has traditionally been diagnosed based on bile duct paucity and resultant liver disease, in combinat...
Published: 5/9/2017   |   Inventor(s): Nancy Spinner, Ian Krantz
Keywords(s): Alagille Syndrome (AGS)
Category(s): Diagnostic