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Pathogenic variants in SOX11 mimicking Pitt-Hopkins syndrome phenotype.

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第一作者： Domizia,Pasquetti

第一单位： Genomic Medicine, Policlinico Universitario "A. Gemelli" Foundation IRCCS, Rome, Italy.

作者： Domizia,Pasquetti ^[1] ; Federica Francesca,L'Erario ^[1] ; Giuseppe,Marangi ^[2] ; Arianna,Panfili ^[3] ; Pietro,Chiurazzi ^[2] ; Elena,Sonnini ^[1] ; Daniela,Orteschi ^[1] ; Paolo,Alfieri ^[4] ; TUDP Study Group ^[5] ; Manuela,Morleo ^[5] ; Vincenzo,Nigro ^[2] ; Marcella,Zollino

作者单位： Genomic Medicine, Policlinico Universitario "A. Gemelli" Foundation IRCCS, Rome, Italy. ^[1] Genomic Medicine, Policlinico Universitario "A. Gemelli" Foundation IRCCS, Rome, Italy.;Department of Life Sciences and Public Health, Catholic University, Rome, Italy. ^[2] Scientific Directorate, Policlinico Universitario "A.Gemelli" Foundation IRCCS, Rome, Italy. ^[3] Department of Neuroscience, Child and Adolescent Neuropsychiatry Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. ^[4] Department of Precision Medicine, University of Campania "Luigi Vanvitelli", Naples, Italy.;Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy. ^[5]

关键词 Pitt-Hopkins syndrome SOX11 neurodevelopmental disorders whole exome sequencing

医学主题词女(雌)性(Female);人类(Humans);儿童(Child);面容(Facies);通气过度(Hyperventilation);表型(Phenotype);SOXC转录因子类(SOXC Transcription Factors)

DOI 10.1111/cge.14414

PMID 37558216

发布时间 2024-04-09

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