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...
Main Authors: | , , , , |
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Format: | Article |
Language: | English |
Published: |
Wiley
2022-12-01
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Series: | Molecular Genetics & Genomic Medicine |
Subjects: | |
Online Access: | https://doi.org/10.1002/mgg3.2053 |