首页> American journal of medical genetics. Part A> Nanopore Sequencing Solves an Elusive Case of Sotos Syndrome.

Nanopore Sequencing Solves an Elusive Case of Sotos Syndrome.

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第一作者： Pasquale,Di Letto

第一单位： Department of Precision Medicine, University of Campania Luigi Vanvitelli, Naples, Italy.

作者： Pasquale,Di Letto ^[1] ; Alberto,Budillon ^[2] ; Sarah Iffat,Rahman ^[1] ; Francesca,Del Vecchio Blanco ^[1] ; Mariateresa,Zanobio ^[1] ; Margherita,Scarpato ^[1] ; Margherita,Russo ^[1] ; Maria Elena,Onore ^[1] ; Giulio,Piluso ^[1] ; TUDP Study Group ^[3] ; Vincenzo,Nigro ^[4] ; Gioacchino,Scarano ^[3] ; Annalaura,Torella

作者单位： Department of Precision Medicine, University of Campania Luigi Vanvitelli, Naples, Italy. ^[1] Department of Precision Medicine, University of Campania Luigi Vanvitelli, Naples, Italy.;Department of Medicine, University of Trieste, Surgery and Health Science, Trieste, Italy. ^[2] Department of Precision Medicine, University of Campania Luigi Vanvitelli, Naples, Italy.;Telethon Institute of Genetics and Medicine, Pozzuoli, Italy. ^[3] Inherited and Rare Cardiovascular Diseases Unit, Department of Translational Medical Sciences, University of Campania "Luigi Vanvitelli," Monaldi Hospital, Naples, Italy.;Medical Genetics Unit, AORN "San Pio,", Hospital "G. Rummo", Benevento, Italy. ^[4]

关键词 Long‐read sequencing NSD1 Sotos Syndrome alu‐mediated rearrangement structural variant