Article
Clinical and Genetic Findings in a Series of Eight Families with Arthrogryposis.
Genes - 23 Dec 2021
Pollazzon Marzia, Caraffi Stefano Giuseppe, Faccioli Silvia, Rosato Simonetta, Fodstad Heidi, Campos-Xavier Belinda, Soncini Emanuele, Comitini Giuseppina, Frattini Daniele, Grimaldi Teresa, Marinelli Maria, Martorana Davide, Percesepe Antonio, Sassi Silvia, Fusco Carlo, Gargano Giancarlo, Superti-Furga Andrea, Garavelli Livia
Abstract excerpt
The term "arthrogryposis" is used to indicate multiple congenital contractures affecting two or more areas of the body. Arthrogryposis is the consequence of an impairment of embryofetal neuromuscular function and development. The causes of arthrogryposis are multiple, and in newborns, it is difficult to predict the molecular defect as well as the clinical evolution just based on clinical findings. We studied a...
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