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 Pretzel Syndrome It is a single gene disorder but it is complex in its mechanics. Pretzel syndrome, is named so by the families for the characteristic body posture
Наименование:

Pretzel Syndrome

автор Lambert M. S. издательство Книга по Требованию Книги
Cтраниц 124        мягкая обложка       
Аннотация:It is a single gene disorder but it is complex in its mechanics. Pretzel syndrome, is named so by the families for the characteristic body posture adopted by many affected children. The LYK5 gene has an important role in normal organ development. The LYK5 gene product is part of a chemical “relay” or “messaging” system that controls the growth and function of many cells in the body. Defective organ development that begins during the earliest stages of pregnancy is not treatable and leads to a variety of medical problems throughout life. Pretzel syndrome is a rare disorder characterized by skeletal deformity, malformation of the brain (with accompanying seizures), electrolyte imbalances, and variable malformations of the heart and other organs. It has a complicated function that is only partly understood. The defective gene is called LYK5. In Pretzel syndrome, part of the LYK5 gene is missing, which leads to a complete loss of this signaling function. Please note that the content of this book primarily consists of articles available from Wikipedia or other free sources online.
Автор: Lambert M. S.
Издательство: Книга по Требованию
Год:2010
Цена:
1508 руб
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Поиск: Pretzel Syndrome
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