First Cornelia de Lange Syndrome Type 4 Caused by the Gonadal Mosaicism of RAD21 Deletion.

doi:10.1155/humu/5591607

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Article

First Cornelia de Lange Syndrome Type 4 Caused by the Gonadal Mosaicism of RAD21 Deletion.

Human mutation - 1 Jan 2026

Xie Yanchuan, Li Dongyan, Li Wensheng, Tao Yingjie, Tang Li, Li Liping, Li Guangda, Jiang Hongwei

Abstract excerpt

Background: Cornelia de Lange syndrome (CdLS) currently has seven known causative genes, inherited in an autosomal or X-linked dominant pattern. Clinical features are variable, including dysmorphic facial features, intrauterine and/or postnatal growth retardation, multiple organ system malformations, and neurodevelopmental disorders. Type 4 of CdLS caused by RAD21 gene has a relatively mild phenotype. Methods:...

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Topics

Humans
De Lange Syndrome
Male
Mosaicism
DNA-Binding Proteins
Female
Pedigree

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Cell Cycle Proteins

Phenotype

Phosphoproteins

Whole Genome Sequencing

Gene Deletion

Siblings

Sequence Deletion

Source

Open in PubMed Open full text

Identifiers

PMID: 42719089
DOI: 10.1155/humu/5591607
PMCID: PMC13555280

Genes

RAD21

Provenance

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