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Clinical Characteristics, Genetic Analysis, and Literature Review of Cornelia de Lange Syndrome Type 4 Associated With a RAD21 Variant.

Molecular genetics & genomic medicine - 1 Sept 2024

Yue Xinyu, Chen Meiping, Ke Xiaoan, Yang Hongbo, Gong Fengying, Wang Linjie, Duan Lian, Pan Hui, Zhu Huijuan

Abstract excerpt

BACKGROUND: Cornelia de Lange syndrome (CdLS) is an uncommon congenital developmental disorder distinguished by intellectual disorder and distinctive facial characteristics, with a minority of cases attributed to RAD21 variants. METHODS: A patient was admitted to the endocrinology department at Peking Union Medical College Hospital, where 2 mL of peripheral venous blood was collected from the patient and his...

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Adolescent
Cell Cycle Proteins
De Lange Syndrome
DNA-Binding Proteins
Exome Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Phosphoproteins

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PMID: 39286962
DOI: 10.1002/mgg3.70009
PMCID: PMC11406311

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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