New Test in NOÛS Catalog
Test Code: 5215
Sample: Whole blood - EDTA (5 ml) Conservation: Refrigerated Method: Sequencing Method Set Up Days: Daily Delivery term: 30 days Information: Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism, ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Pachygyria - epilepsy - intellectual disability - dysmorphism (Fryns-Aftimos syndrome (FA) corresponds to the appearance of BWS in elderly patients. BWS is a genetically heterogeneous disorder, caused by a heterozygous mutation in ACTB (7p22-p12).
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