2023
DOI: 10.3389/fgene.2023.1164936
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Chinese patients with 3M syndrome: clinical manifestations and two novel pathogenic variants

Ningan Xu,
Kangxiang Liu,
Yongjia Yang
et al.

Abstract: Background: 3M syndrome is a rare autosomal recessive disease, characterized by intrauterine and postnatal growth retardation, facial dysmorphism, large head circumference, and skeletal changes, has rarely been reported in the Chinese population.Methods: We describe the clinical manifestations and gene variants in four sporadic cases of 3M syndrome in Chinese individuals from different families.Results: All cases had significant growth retardation, relative macrocephaly, and typical facial features. Exome sequ… Show more

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