Idioma:

Turner Syndrome

Hall, Laura L

eLS, 2006

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Título:
Turner Syndrome
Autor: Hall, Laura L
Assuntos: Chromosomal Disorders ; Development of Vertebrate Nervous System ; Developmental Biology ; Developmental Disorders ; Epigenetics and Disease ; Gene and Genome Structure and Organisation ; Genes, Molecules and Cellular Processes ; Genetics & Disease ; Genetics of Intelligence and Cognition ; Nervous System Development ; Neuroscience ; Organisation of the Nervous System ; Organogenesis ; Quantitative Genetics
É parte de: eLS, 2006
Descrição: Turner syndrome (TS) results from the absence of some or all of the X chromosome, with a karyotype of 45,X in the fully developed syndrome. Because not all genes on the X chromosome are inactivated normally, the diminished expression of these genes presumably leads to the TS phenotype, including short stature, incomplete sexual development and reproductive function, and other structural and cognitive abnormalities. Research has begun to identify genes that are potentially linked to TS, including the short stature homeobox ( SHOX ) gene and DFRX , the human homolog of a fruitfly gene involved in oogenesis.
Editor: Chichester, UK: John Wiley & Sons, Ltd
Formato: 3
Idioma: Inglês

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