Diagnosis challenges in CHARGE syndrome: A novel variant and clinical description

Diagnosis challenges in CHARGE syndrome: A novel variant and clinical description

Introduction: In resource-limited settings, patients with uncommon phenotypes often face prolonged diagnostic journeys and potential misdiagnoses. Coloboma, heart defects, atresia choanae, restricted growth and development, genital and ear abnormalities syndrome (CHARGE) syndrome, a congenital condi...

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Bibliographic Details
Main Authors: Samantha Saenz Hinojosa, Carlos Reyes, Vanessa I. Romero
Format: Article
Language:English
Published: Elsevier 2024-03-01
Series:Heliyon
Subjects:
CHARGE syndrome
Genetic testing
Misdiagnosis
CHD7
Noonan syndrome
Online Access:http://www.sciencedirect.com/science/article/pii/S2405844024040556

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http://www.sciencedirect.com/science/article/pii/S2405844024040556

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