Article
LEOPARD syndrome-associated SHP2 mutation confers leanness and protection from diet-induced obesity.
Proceedings of the National Academy of Sciences of the United States of America - 21 Oct 2014
Tajan Mylène, Batut Aurélie, Cadoudal Thomas, Deleruyelle Simon, Le Gonidec Sophie, Saint Laurent Céline, Vomscheid Maëlle, Wanecq Estelle, Tréguer Karine, De Rocca Serra-Nédélec Audrey, Vinel Claire, Marques Marie-Adeline, Pozzo Joffrey, Kunduzova Oksana, Salles Jean-Pierre, Tauber Maithé, Raynal Patrick, Cavé Hélène, Edouard Thomas, Valet Philippe, Yart Armelle
Abstract excerpt
LEOPARD syndrome (multiple Lentigines, Electrocardiographic conduction abnormalities, Ocular hypertelorism, Pulmonary stenosis, Abnormal genitalia, Retardation of growth, sensorineural Deafness; LS), also called Noonan syndrome with multiple lentigines (NSML), is a rare autosomal dominant disorder associating various developmental defects, notably cardiopathies, dysmorphism, and short stature. It is mainly caused...
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