Search Results - "Zinali, Federica"

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    A new case of Smith‐Kingsmore syndrome with somatic MTOR pathogenic variant expands the phenotypic spectrum to lateralized overgrowth by Carli, Diana, Ferrero, Giovanni Battista, Fusillo, Anna, Coppo, Paola, La Selva, Roberta, Zinali, Federica, Cardaropoli, Simona, Ranieri, Carlotta, Iacoviello, Matteo, Resta, Nicoletta, Mussa, Alessandro

    Published in Clinical genetics (01-05-2021)
    “…Smith‐Kingsmore syndrome (SKS) is a rare autosomal dominant disorder caused by heterozygous germline activating pathogenic variants in mammalian target of…”
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    Journal Article