Familial Russell–Silver Syndrome like Phenotype in the PCNA Domain of the CDKN1C Gene, a Further Case

We present two half siblings with significant short stature who proved a diagnostic challenge for several years. Radiological findings included subtle epiphyseal changes. The diagnosis was made through whole genome sequencing via the 100,000 genome project. A maternally inherited pathogenic heterozy...

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Detalles Bibliográficos
Autores principales: Sabir, A. H., Ryan, G., Mohammed, Z., Kirk, J., Kiely, N., Thyagarajan, M., Cole, T.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6959155/
https://www.ncbi.nlm.nih.gov/pubmed/31976094
http://dx.doi.org/10.1155/2019/1398250

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6959155/
https://www.ncbi.nlm.nih.gov/pubmed/31976094
http://dx.doi.org/10.1155/2019/1398250

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