Co‐segregation of a homozygous SMN1 deletion and a heterozygous PMP22 duplication in a patient

Despite co‐segregation of two different genetic neurological disorders within a family is rare, clinicians should take into consideration this possibility in patients presenting with unusual complex phenotypes or with unexpected electrophysiological findings. Here, we report a Spanish 11‐month‐old p...

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Detalles Bibliográficos
Autores principales: Fernández, Raquel M., Peciña, Ana, Muñoz‐Cabello, Beatriz, Antiñolo, Guillermo, Borrego, Salud
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2016
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5018594/
https://www.ncbi.nlm.nih.gov/pubmed/27648268
http://dx.doi.org/10.1002/ccr3.645

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5018594/
https://www.ncbi.nlm.nih.gov/pubmed/27648268
http://dx.doi.org/10.1002/ccr3.645

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