Early Prenatal Diagnosis of Cornelia de Lange's Syndrome with Whole-Exome Sequencing: A Case Report

Cornelia de Lange's syndrome (CDLS) is a multisystem genetic syndrome characterized by well-defined physical, intellectual, and behavioral characteristics. The diagnosis of CDLS is typically done clinically after birth; however, recent studies have demonstrated the ability to use prenatal ultrasound...

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Principais autores:	Amna Iftikhar, Kathleen Barnes, Melissa Figueroa, Antonia P. Francis
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Thieme Medical Publishers, Inc. 2024-01-01
coleção:	American Journal of Perinatology Reports
Assuntos:	Cornelia de Lange's syndrome prenatal diagnosis whole-exome sequencing prenatal ultrasound cohesinopathies
Acesso em linha:	http://www.thieme-connect.de/DOI/DOI?10.1055/s-0043-1776149
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