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Clinical and molecular spectrum along with genotype-phenotype correlation of 25 patients diagnosed with 3 M syndrome: a study from Turkey.

European journal of pediatrics - 7 Dec 2024

Akalın Akçahan, Özalkak Şervan, Yıldırım Ruken, Karakaya Amine Aktar, Kolbaşı Barış, Durmuşalioğlu Enise Avcı, Kökali Funda, Ürel-Demir Gizem, Öz Veysel, Ünal Edip, Atik Tahir, Şimşek-Kiper Pelin Özlem, Elcioglu Nursel H

Abstract excerpt

3 M syndrome is a well-known autosomal recessive skeletal genetic disorder caused by biallelic pathogenic variants in the CUL7, OBSL1, and CCDC8 genes. Affected individuals exhibit profound pre- and postnatal growth retardation, distinctive facial features with normal intelligence. This study aims to provide insight into the comprehensive evaluation of clinical, laboratory, and radiological findings, expand the...

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PMID: 39643721
DOI: 10.1007/s00431-024-05855-2

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