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Clinical and Molecular Spectrum Along With Genotype-Phenotype Correlation of 25 Patients Diagnosed With 3M Syndrome: A Study from Turkey

2024-08-19

Abstract excerpt

<title>Abstract</title> <p><bold>Objective: </bold>3M syndrome is a well-known autosomal recessive skeletal genetic disorder caused by biallelic pathogenic variants in the <italic>CUL7</italic>,<italic> OBSL1</italic>, and <italic>CCDC8</italic>genes. Affected individuals exhibit profound pre- and postnatal growth retardation, distinctive facial features with normal intelligence. This study aims to provide insigh...

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Literature Corpus work: 32d37417-11aa-5b19-85c8-2b8f355eb5e9
DOI: 10.21203/rs.3.rs-4764698/v1

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