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Article

The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders

14 Jun 2017

Abstract excerpt

Sir, We read with great interest the article recently published in Brain by Anttonen et al. (2017) reporting a homozygous p.Ser31Leu mutation in the ZNHIT3 gene causing PEHO (progressive encephalopathy with peripheral oedema, hypsarrhythmia, and optic atrophy) syndrome (MIM 260565) in a series of affected children from Finland. PEHO was first described in the Finnish population (Salonen et al., 1991) and the...

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Congenital Anomalies and Fetal Surgery
Congenital Ear and Nasal Anomalies
Virology and Viral Diseases

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 28899015
DOI: 10.1093/brain/awx155

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