PUS3-related disorder: Report of a novel patient and delineation of the phenotypic spectrum.

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作者： Alessandro,Borghesi ^[1] ; Massimo,Plumari ^[2] ; Elena,Rossi ^[3] ; Claudia,Viganò ^[3] ; Rosa Maria,Cerbo ^[4] ; Alessia Claudia,Codazzi ^[1] ; Enza Maria,Valente ^[1] ; Simone,Gana ^[5]

作者单位： Neonatal Intensive Care Unit, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy. ^[1] Fellay lab, Ecole Polytechnique Fédérale de Lausanne, Lausanne, Switzerland. ^[2] Medical Genetics Unit, IRCCS Mondino Foundation, Pavia, Italy. ^[3] Department of Molecular Medicine, University of Pavia, Pavia, Italy. ^[4] Pediatric Cardiology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy. ^[5]

关键词 PUS3 congenital malformation exome sequencing tRNA

主题词儿童(Child);发育障碍(Developmental Disabilities);纯合子(Homozygote);人类(Humans);小头畸形(Microcephaly);神经系统畸形(Nervous System Malformations);表型(Phenotype)

DOI 10.1002/ajmg.a.62547

PMID 34713961

发布时间 2022-04-07

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