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A Broader Perspective on the Prenatal Diagnosis of Cornelia de Lange Syndrome: Review of the Literature and Case Presentation

Cornelia de Lange syndrome (CDLS) is caused by pathogenic variants in genes which are structural or regulatory components of the cohesin complex. The classical Cornelia de Lange (CDLS) phenotype is characterized by distinctive facial features, growth retardation, upper limb reduction defects, hirsut...

詳細記述

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書誌詳細
出版年:Diagnostics (Basel)
主要な著者: Panaitescu, Anca Maria, Duta, Simona, Gica, Nicolae, Botezatu, Radu, Nedelea, Florina, Peltecu, Gheorghe, Veduta, Alina
フォーマット: Artigo
言語:Inglês
出版事項: MDPI 2021
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC7835910/
https://ncbi.nlm.nih.gov/pubmed/33478103
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/diagnostics11010142
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