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...

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Bibliographic Details
Main Authors: Ningan Xu, Kangxiang Liu, Yongjia Yang, Xiaoming Li, Yan Zhong
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-08-01
Series:Frontiers in Genetics
Subjects:
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2023.1164936/full