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

Fernández, Raquel María; Peciña, Ana; Muñoz-Cabello, Beatriz; Antiñolo Gil, Guillermo; Borrego, Salud

doi:10.1002/ccr3.645

Artículo

dc.creator	Fernández, Raquel María	es
dc.creator	Peciña, Ana	es
dc.creator	Muñoz-Cabello, Beatriz	es
dc.creator	Antiñolo Gil, Guillermo	es
dc.creator	Borrego, Salud	es
dc.date.accessioned	2021-06-21T18:33:18Z
dc.date.available	2021-06-21T18:33:18Z
dc.date.issued	2016-07-03
dc.identifier.citation	Fernández, R.M., Peciña, A., Muñoz-Cabello, B., Antiñolo Gil, G. y Borrego, S. (2016). Co-segregation of a homozygous SMN1 deletion and a heterozygous PMP22 duplication in a patient. Clinical Case Reports, 4 (9), 879-884.
dc.identifier.issn	2050-0904 (electrónico)	es
dc.identifier.uri	https://hdl.handle.net/11441/114708
dc.description.abstract	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 patient with spinal muscular atrophy type 2 and Charcot-Marie-Tooth 1A.	es
dc.format	application/pdf	es
dc.format.extent	6	es
dc.language.iso	eng	es
dc.publisher	Wiley Open Access	es
dc.relation.ispartof	Clinical Case Reports, 4 (9), 879-884.
dc.rights	Attribution-NonCommercial-NoDerivatives 4.0 Internacional	*
dc.rights.uri	http://creativecommons.org/licenses/by-nc-nd/4.0/	*
dc.subject	Charcot-Marie-Tooth 1A	es
dc.subject	Co-segregation	es
dc.subject	Double-trouble cases	es
dc.subject	Genetic analysis	es
dc.subject	Spinal muscular atrophy	es
dc.title	Co-segregation of a homozygous SMN1 deletion and a heterozygous PMP22 duplication in a patient	es
dc.type	info:eu-repo/semantics/article	es
dcterms.identifier	https://ror.org/03yxnpp24
dc.type.version	info:eu-repo/semantics/acceptedVersion	es
dc.rights.accessRights	info:eu-repo/semantics/openAccess	es
dc.contributor.affiliation	Universidad de Sevilla. Departamento de Cirugía	es
dc.relation.publisherversion	https://onlinelibrary.wiley.com/doi/10.1002/ccr3.645	es
dc.identifier.doi	10.1002/ccr3.645	es
dc.journaltitle	Clinical Case Reports	es
dc.publication.volumen	4	es
dc.publication.issue	9	es
dc.publication.initialPage	879	es
dc.publication.endPage	884	es

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