Genetic mutations associated with Sotos and Kabuki syndromes - Queiroz, Paulo Roberto;Silverio, Bruna da Cruz;Vieira, Karolline S.
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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…mehr

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Produktbeschreibung
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.
Autorenporträt
Paulo Roberto Queiroz - Uzyskä tytu¿ licencjata i magistra nauk biologicznych na Uniwersytecie w Brasílii (1996); tytu¿ magistra biologii molekularnej (2000) i doktora biologii zwierz¿cej na Uniwersytecie w Brasílii (2006); oraz tytu¿ doktora habilitowanego w dziedzinie genetyki molekularnej.