Gordon Holmes syndrome due to compound heterozygosity of two new PNPLA6 variants – A diagnostic challenge

BACKGROUND: Gordon Holmes syndrome (GHS), characterized by cerebellar ataxia and hypogonadotropic hypogonadism (HH), has been related to recessive mutations in PNPLA6 gene. AIMS OF THE STUDY: Describe one Portuguese family with GHS due to compound heterozygosity of two new PNPLA6 variants. METHODS:...

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Detalles Bibliográficos
Autores principales: Salgado, Paula, Carvalho, Rui, Brandão, Ana Filipa, Jorge, Paula, Ramos, Cristina, Dias, Daniel, Alonso, Isabel, Magalhães, Marina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6275202/
https://www.ncbi.nlm.nih.gov/pubmed/30555943
http://dx.doi.org/10.1016/j.ensci.2018.11.022

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6275202/
https://www.ncbi.nlm.nih.gov/pubmed/30555943
http://dx.doi.org/10.1016/j.ensci.2018.11.022

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