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NARA Subscribed1
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Springer Nature1
Journal
Human Genetics1
Publication Year
20211
Giulia Forzano results 1 · Newest (Page 1/1, per page 25)
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Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genesNARA Subscribed
Human Genetics · 2021 · Vol. 140 · Issue 4 · Springer
Aldesia Provenzano; Andrea La Barbera; Mirko Scagnet; Angelica Pagliazzi; Giovanna Traficante; Marilena Pantaleo; Lucia Tiberi; Debora Vergani; Nehir Edibe Kurtas; Silvia Guarducci; Sara Bargiacchi; Giulia Forzano; Rosangela Artuso; Viviana Palazzo; Ada Kura; Flavio Giordano; Daniele di Feo; Marzia Mortilla; Claudio De Filippi; Gianluca Mattei; Livia Garavelli; Betti Giusti; Lorenzo Genitori; Orsetta Zuffardi; Sabrina Giglio
Type 1 Chiari malformation (C1M) is characterized by cerebellar tonsillar herniation of 3–5 mm or more, the frequency of which is presumably much higher than one in 1000 births, as previously believed. Its etiology remains undefined, although a genetic basis is strongly supported by C1M presence in numerous genetic syndromes associated with different genes. Whole-exome sequencing (WES) in 51 between isolated and syndromic pedi...
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