{"product_id":"genetic-mutations-associated-with-sotos-and-kabuki-syndromes-9786200755827","title":"Genetic mutations associated with Sotos and Kabuki syndromes","description":"\u003cp\u003e • Author(s): Paulo Roberto Queiroz | Bruna Da Cruz Silverio | Karolline S. Vieira\u003cbr\u003e • Publisher: Our Knowledge Publishing\u003cbr\u003e • Publisher Imprint: Our Knowledge Publishing\u003cbr\u003e • BISAC: Life Sciences - Genetics \u0026amp; Genomics\u003c\/p\u003e\u003cp\u003eSotos syndrome is an abnormality also known as cerebral gigantism, and it presents three main characteristics that facilitate recognition of the pathology: characteristic facial features, excessive growth, and learning difficulties. It is a syndrome with an autosomal dominant inheritance pattern, a diverse phenotype, and its main cause is haploinsufficiency of the NSD1 gene located on the long arm of chromosome 5. Kabuki syndrome manifests itself through Niikawa's pentad (dysmorphic face; skeletal anomalies; dermatoglyphic alterations; mild to moderate mental retardation; postnatal growth retardation). The clinical diagnosis has linked a series of physical characteristics present in patients with KS, but what is expected regarding this syndrome is a consensus on the relationship between molecular diagnosis and mutations present in the MLL2 (KMT2D) gene.\u003c\/p\u003e","brand":"Atlantic Books","offers":[{"title":"Paperback","offer_id":46377209069719,"sku":"9786200755827","price":2790.0,"currency_code":"INR","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0666\/3471\/1191\/files\/9786200755827.webp?v=1768760312","url":"https:\/\/atlanticbooks.com\/products\/genetic-mutations-associated-with-sotos-and-kabuki-syndromes-9786200755827","provider":"Atlantic Books","version":"1.0","type":"link"}