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Clinical report: variable phenotypic expression in a large sibling cohort with a deletion of 4p16.1

We report a half‐sibling cohort with deletion of 4p16.1, astigmatism, gross and fine motor delay, variable intellectual disability, and variable behavioral concerns. However, two siblings without the deletion also had learning delays and psychological concerns. Thus, variable phenotypic expression w...

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Detalles Bibliográficos
Autores principales: Guy, Carrie, Wang, Xianfu, Lu, Xianglan, Lu, Jin, Li, Shibo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5054462/
https://www.ncbi.nlm.nih.gov/pubmed/27761238
http://dx.doi.org/10.1002/ccr3.638