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

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...

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Chi tiết về thư mục
Những tác giả chính: Anca Maria Panaitescu, Simona Duta, Nicolae Gica, Radu Botezatu, Florina Nedelea, Gheorghe Peltecu, Alina Veduta
Định dạng: Bài viết
Ngôn ngữ:English
Được phát hành: MDPI AG 2021-01-01
Loạt:Diagnostics
Những chủ đề:
Cornelia de Lange
genetic syndrome
prenatal diagnosis
ultrasound
Truy cập trực tuyến:https://www.mdpi.com/2075-4418/11/1/142

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https://www.mdpi.com/2075-4418/11/1/142

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