Cornelia de Lange Syndrome Caused by an Intragenic Heterozygous Deletion in <i>RAD21</i> Detected through Very-High-Resolution Chromosomal Microarray Analysis

Cornelia de Lange Syndrome Caused by an Intragenic Heterozygous Deletion in <i>RAD21</i> Detected through Very-High-Resolution Chromosomal Microarray Analysis

Cornelia de Lange syndrome is a genetic and clinically heterogeneous entity, caused by at least five genes. It is characterized by short stature, gestalt facies, microcephaly, neurodevelopmental disorders, and other anomalies. In this report, we present a 13-year-old female patient with microcephaly...

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Bibliographic Details
Main Authors: Hugo H. Abarca-Barriga, Renzo Punil Luciano, Flor Vásquez Sotomayor
Format: Article
Language:English
Published: MDPI AG 2023-12-01
Series:Genes
Subjects:
<i>RAD21</i>
de Lange syndrome
microarray analysis
gene deletion
Online Access:https://www.mdpi.com/2073-4425/14/12/2212

Internet

https://www.mdpi.com/2073-4425/14/12/2212

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