首页> American journal of medical genetics. Part A> Whole Blood Multi-OMIC Analysis Is Effective in Clinical Interpretation of Splicing Aberrations in PLOD1 -Related Kyphoscoliotic Ehlers-Danlos Syndrome.

Whole Blood Multi-OMIC Analysis Is Effective in Clinical Interpretation of Splicing Aberrations in PLOD1 -Related Kyphoscoliotic Ehlers-Danlos Syndrome.

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第一作者： Federica,Russo

第一单位： UOC Genetica Medica, Fondazione IRCCS-Casa Sollievo Della Sofferenza, San Giovanni Rotondo, Italy.

作者： Federica,Russo ^[1] ; Cecilia,Daolio ^[2] ; Ester,Di Muro ^[1] ; Laura,Pezzoli ^[3] ; Lucrezia,Goisis ^[3] ; Lorenzo,Vaccaro ^[4] ; Maria,Iascone ^[3] ; Davide,Cacchiarelli ^[5] ; Marco,Castori ^[1] ; Lucia,Micale ^[1]

作者单位： UOC Genetica Medica, Fondazione IRCCS-Casa Sollievo Della Sofferenza, San Giovanni Rotondo, Italy. ^[1] Pediatrics, Fondazione IRCCS San Gerardo Dei Tintori, Monza, Italy. ^[2] Laboratory of Medical Genetics, ASST Papa Giovanni XXIII, Bergamo, Italy. ^[3] Telethon Institute of Genetics and Medicine (TIGEM), Armenise/Harvard Laboratory of Integrative Genomics, Pozzuoli, Italy.;Department of Translational Medicine, University of Naples "Federico II", Naples, Italy. ^[4] Telethon Institute of Genetics and Medicine (TIGEM), Armenise/Harvard Laboratory of Integrative Genomics, Pozzuoli, Italy.;Department of Translational Medicine, University of Naples "Federico II", Naples, Italy.;Genomics and Experimental Medicine Program, Scuola Superiore Meridionale (SSM, School of Advanced Studies), Naples, Italy. ^[5]

关键词 PLOD1 RNA sequencing intronic variant kyphoscoliotic Ehlers‐Danlos syndrome