Cohen syndrome in two patients from China

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 features. T...

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Detalles Bibliográficos
Autores principales: Gong, Jiaoe, Zhang, Lily, Long, Yanwei, Xiao, Bo, Long, Hongyu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9747547/
https://www.ncbi.nlm.nih.gov/pubmed/36073289
http://dx.doi.org/10.1002/mgg3.2053

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9747547/
https://www.ncbi.nlm.nih.gov/pubmed/36073289
http://dx.doi.org/10.1002/mgg3.2053

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