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...

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Detalles Bibliográficos
Autores principales: Xu, Ningan, Liu, Kangxiang, Yang, Yongjia, Li, Xiaoming, Zhong, Yan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10501862/
https://www.ncbi.nlm.nih.gov/pubmed/37719700
http://dx.doi.org/10.3389/fgene.2023.1164936

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10501862/
https://www.ncbi.nlm.nih.gov/pubmed/37719700
http://dx.doi.org/10.3389/fgene.2023.1164936

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