Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis—The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes-Reference-Cited by-同舟云学术

Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis—The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes

Published:2016-05 Issue:3 Volume:20 Page:462-473
ISSN:1090-3798
Container-title:European Journal of Paediatric Neurology
language:en
Short-container-title:European Journal of Paediatric Neurology

Author:

Jezela-Stanek Aleksandra,Ciara Elżbieta,Piekutowska-Abramczuk Dorota,Trubicka Joanna,Jurkiewicz Elżbieta,Rokicki Dariusz,Mierzewska Hanna,Spychalska Justyna,Uhrynowska Małgorzata,Szwarc-Bronikowska Marta,Buda Piotr,Said Abdul Rahim,Jamroz Ewa,Rydzanicz Małgorzata,Płoski Rafał,Krajewska-Walasek Małgorzata,Pronicka Ewa

Publisher

Elsevier BV

Subject

Neurology (clinical),General Medicine,Pediatrics, Perinatology and Child Health

Reference36 articles.

1. Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency;Almeida;Nat Med,2006

2. Guidelines for the diagnosis and monitoring of paroxysmal nocturnal hemoglobinuria and related disorders by flow cytometry;Borowitz;Cytometry Part B Clin Cytometry,2010

3. Exome sequencing identifies a recessive PIGN splice site mutation as a cause of syndromic congenital diaphragmatic hernia;Brady;Eur J Med Genet,2014

4. Glycosylphosphatidylinositol (GPI) anchor deficiency caused by mutations in PIGW is associated with west syndrome and hyperphosphatasia with mental retardation syndrome;Chiyonobu;J Med Genet,2014

5. The phenotype of multiple congenital anomalies-hypotonia-seizures syndrome 1: report and review;Couser;Am J Med Genet A,2015

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