Complex chromosomal rearrangements causing Langer-Giedion syndrome atypical phenotype: genotype-phenotype correlation and literature review.

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第一作者： Gerarda,Cappuccio

第一单位： Department of Translational Medical Sciences, Federico II University, Naples, Italy.

作者： Gerarda,Cappuccio ^[1] ; Rita,Genesio ; Valentina,Ronga ; Alberto,Casertano ; Antonella,Izzo ; Maria Pia,Riccio ; Carmela,Bravaccio ; Maria Carolina,Salerno ; Lucio,Nitsch ; Generoso,Andria ; Daniela,Melis

作者单位： Department of Translational Medical Sciences, Federico II University, Naples, Italy. ^[1]

关键词 8q deletion CYP11B2 deficiency Cornelia de Lange syndrome Langer-Giedion syndrome hyperreninemia mental delay

主题词儿童, 学龄前(Child, Preschool);染色体显带(Chromosome Banding);比较基因组杂交(Comparative Genomic Hybridization);面容(Facies);女(雌)性(Female);遗传关联研究(Genetic Association Studies);人类(Humans);原位杂交, 荧光(In Situ Hybridization, Fluorescence);Langer-Giedion综合征(Langer-Giedion Syndrome);表型(Phenotype);易位, 遗传(Translocation, Genetic)

DOI 10.1002/ajmg.a.36326

PMID 24357330

发布时间 2020-09-30

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American journal of medical genetics. Part A

2014年164A卷3期

753-9页

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Complex chromosomal rearrangements causing Langer-Giedion syndrome atypical phenotype: genotype-phenotype correlation and literature review.

American journal of medical genetics. Part A

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American journal of medical genetics. Part A

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Complex chromosomal rearrangements causing Langer-Giedion syndrome atypical phenotype: genotype-phenotype correlation and literature review.

American journal of medical genetics. Part A

相似文献

American journal of medical genetics. Part A

相关期刊

检索历史清除