Article
Novel insights into the clinico-radiological spectrum of phenotypes associated to PIGN mutations.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Jul 2021
De Giorgis Valentina, Paoletti Matteo, Varesio Costanza, Gana Simone, Rognone Elisa, Dallavalle Gianfranco, Papalia Grazia, Pichiecchio Anna
Abstract excerpt
OBJECTIVES: Autosomic recessive mutations in the PIGN gene have been described in less than 30 subjects to date, in whom multiple congenital anomalies combined with severe developmental delay, hypotonia, epileptic encephalopathy, and cerebellar atrophy have been described as crucial features. A clear-cut neuroradiological characterization of this entity, however, is still lacking. We aim to present three...
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