Name: Genetic mutations associated with Sotos and Kabuki syndromes. Study of mutations in the NS1 and MLL2 genes (en Inglés)
Price: 128576.00 COP
Availability: InStock
Author: Paulo Roberto Queiroz;Bruna da Cruz Silverio;Karolline S. Vieira
ISBN: 9786200755827

portada Genetic mutations associated with Sotos and Kabuki syndromes. Study of mutations in the NS1 and MLL2 genes (en Inglés)

Genetic mutations associated with Sotos and Kabuki syndromes. Study of mutations in the NS1 and MLL2 genes (en Inglés)

Formato

Libro Físico

Editorial

Our Knowledge Publishing

Autor

Paulo Roberto Queiroz;Bruna da Cruz Silverio;Karolline S. Vieira

Año

2025

Idioma

Inglés

N° páginas

Encuadernación

Tapa Blanda

Dimensiones

22.00 x 15.00 cm

ISBN13

9786200755827

Genetic mutations associated with Sotos and Kabuki syndromes. Study of mutations in the NS1 and MLL2 genes (en Inglés)

Paulo Roberto Queiroz;Bruna Da Cruz Silverio;Karolline S. Vieira (Autor) · Our Knowledge Publishing · Tapa Blanda

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Reseña del libro "Genetic mutations associated with Sotos and Kabuki syndromes. Study of mutations in the NS1 and MLL2 genes (en Inglés)"

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.