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Gordon Holmes syndrome due to compound heterozygosity of two new PNPLA6 variant...

Salgado, P; Carvalho, R; Brandão, AF; Jorge, P; Ramos, C; Dias, D; Alonso, I; Magalhães, M

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: Report on the clinical presentation, diagnostic and genetic workup to reach GHS diagnosis. Results: The index case...

Date: 2019   |   Origin: Repositório Aberto da Universidade do Porto
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