Chinese patients with 3M syndrome: clinical manifestations and two novel pathogenic variants
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 g...
Main Authors: | , , , , |
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Format: | Article |
Language: | English |
Published: |
Frontiers Media S.A.
2023-08-01
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Series: | Frontiers in Genetics |
Subjects: | |
Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2023.1164936/full |