Novel insights into the clinico-radiological spectrum of phenotypes associated to PIGN mutations
Author:
Funder
Ministero della Salute
Publisher
Elsevier BV
Subject
Neurology (clinical),General Medicine,Pediatrics, Perinatology and Child Health
Reference27 articles.
1. Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders;Pagnamenta;Eur J Hum Genet EJHG,2017
2. Neurology of inherited glycosylation disorders;Freeze;Lancet Neurol.,2012
3. Diseases of glycosylation beyond classical congenital disorders of glycosylation;Hennet;Biochim. Biophys. Acta,2012
4. Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis;Knaus;Genome Med.,2018
5. Fryns syndrome;Slavotinek,1993
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2. PIGN-Related Disease in Two Lithuanian Families: A Report of Two Novel Pathogenic Variants, Molecular and Clinical Characterisation;Medicina;2022-10-26
3. Multiple drugs;Reactions Weekly;2022-07
4. PIGN encephalopathy: Characterizing the epileptology;Epilepsia;2022-02-18
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