Journal of Genetic Disorders & Genetic ReportsISSN: 2327-5790

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Stefania Azzali Author

StefaniaAzzali@gmail.com

Subjects of specialization
Rare genetic disease

Affiliation
Ring14 International, Headquarter, Via Santa Maria alla Porta, 2-20124 Milan, Italy

Biography

Stefania Azzali  intrested in the field Ring chromosome ; Chromosome  syndromes; Rare genetic disease; Patient advocacy group; Promotion of scientific activities from Ring14 International, Headquarter, Via Santa Maria alla Porta, 2-20124 Milan, Italy

Publications

Short Communication Open Access

Ring14 International:Development of a National-Based Patient Association towards a “Global” Network Initiative to Fight a Chromosomal Disorder

Author(s):

Stefania Azzali, Yssa DeWoody, Berardo Rinaldi and Marco Crimi

 Ring14 International:Development of a National-Based Patient Association towards a “Global” Network Initiative to Fight a Chromosomal Disorder

Chromosome 14 syndromes are rare genetic disorders. In some cases, one of the two chromosomes assumes the form of a ring resulting in “Ring14 syndrome,” characterized by early onset refractory epilepsy, motor and mental retardation, and a multitude of other physical challenges. In other chromosomal syndromes, the 14th pair loses or transfe... view more»

DOI: 10.4172/2327-5790.1000124

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