Double homozygosity in CEP57 and DYNC2H1 genes detected by WES: Composite or expanded phenotype?

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第一作者： Lidia,Pezzani

第一单位： Laboratorio di Genetica Medica, ASST Papa Giovanni XXIII, Bergamo, Italy.

作者： Lidia,Pezzani ^[1] ; Laura,Pezzoli ^[1] ; Alessandra,Pansa ^[1] ; Barbara,Facchinetti ^[1] ; Daniela,Marchetti ^[1] ; Agnese,Scatigno ^[2] ; Anna R,Lincesso ^[1] ; Loredana,Perego ^[1] ; Monica,Pingue ^[1] ; Isabella,Pellicioli ^[3] ; Lucia,Migliazza ^[4] ; Giovanna,Mangili ^[5] ; Lorenzo,Galletti ^[6] ; Ursula,Giussani ^[1] ; Ezio,Bonanomi ^[3] ; Anna,Cereda ^[2] ; Maria,Iascone ^[1]

作者单位： Laboratorio di Genetica Medica, ASST Papa Giovanni XXIII, Bergamo, Italy. ^[1] Pediatria, ASST Papa Giovanni XXIII, Bergamo, Italy. ^[2] Terapia Intensiva Pediatrica, ASST Papa Giovanni XXIII, Bergamo, Italy. ^[3] Chirurgia Pediatrica, ASST Papa Giovanni XXIII, Bergamo, Italy. ^[4] Patologia Neonatale, ASST Papa Giovanni XXIII, Bergamo, Italy. ^[5] Cardiochirurgia, ASST Papa Giovanni XXIII, Bergamo, Italy. ^[6]

关键词 CEP57 DYNC2H1 WES composite phenotype double homozygosity

主题词胞浆动力蛋白类(Cytoplasmic Dyneins);心脏缺损, 先天性(Heart Defects, Congenital);纯合子(Homozygote);人类(Humans);甲状腺功能减退症(Hypothyroidism);婴儿(Infant);男(雄)性(Male);微管相关蛋白质类(Microtubule-Associated Proteins);镶嵌现象(Mosaicism);肌肉骨骼畸形(Musculoskeletal Abnormalities);突变(Mutation);核蛋白质类(Nuclear Proteins);表型(Phenotype);综合征(Syndrome)

DOI 10.1002/mgg3.1064

PMID 31943948

发布时间 2022-12-07

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Molecular genetics & genomic medicine

2020年8卷3期

e1064页

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Double homozygosity in CEP57 and DYNC2H1 genes detected by WES: Composite or expanded phenotype?

Molecular genetics & genomic medicine

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Molecular genetics & genomic medicine

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Double homozygosity in CEP57 and DYNC2H1 genes detected by WES: Composite or expanded phenotype?

Molecular genetics & genomic medicine

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Molecular genetics & genomic medicine

相关期刊

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