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Genetic mutations associated with Sotos and Kabuki syndromes by Queiroz, Paulo Roberto

Genetic mutations associated with Sotos and Kabuki syndromes

by Paulo Roberto Queiroz , Bruna Da Cruz Silverio , Karolline S. Vieira
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Book cover type: Paperback
  • ISBN13: 9786200755827
  • Binding: Paperback
  • Subject: N/A
  • Publisher: Our Knowledge Publishing
  • Publisher Imprint: Our Knowledge Publishing
  • Publication Date:
  • Pages: 52
  • Original Price: GBP 25.14
  • Language: English
  • Edition: N/A
  • Item Weight: 82 grams
  • BISAC Subject(s): Life Sciences / Genetics & Genomics

Sotos 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.

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