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Filtri: Autore è Fabretto, Antonella [Clear All Filters]
Two cases of Noonan syndrome with severe respiratory and gastroenteral involvement and the SOS1 mutation F623I. Eur J Med Genet 2010;53(5):322-4.
. De novo 6.9 Mb interstitial deletion on chromosome 4q31.1-q32.1 in a girl with severe speech delay and dysmorphic features. Am J Med Genet A 2012;158A(4):882-7.
. A case of lymphedema-distichiasis syndrome carrying a new de novo frameshift FOXC2 mutation. Ophthalmic Genet 2010;31(2):98-100.
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