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

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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Bibliographic Details
Main Authors: Paula Salgado, Rui Carvalho, Ana Filipa Brandão, Paula Jorge, Cristina Ramos, Daniel Dias, Isabel Alonso, Marina Magalhães
Format: Article
Language:English
Published: Elsevier 2019-03-01
Series:eNeurologicalSci
Online Access:http://www.sciencedirect.com/science/article/pii/S2405650218300546

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http://www.sciencedirect.com/science/article/pii/S2405650218300546

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