Cohen syndrome in two patients from China

Abstract Background Cohen syndrome (CS; OMIM 216550) is a rare syndrome with evident clinical heterogeneity. The diverse phenotype comprises early‐onset hypotonia and developmental delays, intellectual disabilities, microcephaly, hypermobile joints, neutropenia, myopia, and characteristic facial fea...

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Bibliographic Details
Main Authors: Jiaoe Gong, Lily Zhang, Yanwei Long, Bo Xiao, Hongyu Long
Format: Article
Language:English
Published: Wiley 2022-12-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
Online Access:https://doi.org/10.1002/mgg3.2053