Maternal transmission of a mild Coffin–Siris syndrome phenotype caused by a SOX11 missense variant

Here we report for the first time on the maternal transmission of mild Coffin–Siris syndrome (CSS) caused by a SOX11 missense variant. We present two sisters with intellectual disability and muscular hypotonia born to non-consanguineous parents. Cogan ocular motor apraxia was present in both sisters...

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Detalles Bibliográficos
Autores principales: Hanker, Britta, Gillessen-Kaesbach, Gabriele, Hüning, Irina, Lüdecke, Hermann-Josef, Wieczorek, Dagmar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2021
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8738766/
https://www.ncbi.nlm.nih.gov/pubmed/33785884
http://dx.doi.org/10.1038/s41431-021-00865-2

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