Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis—The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes
Aleksandra Jezela‐Stanek, Ewa Pronicka(Children's Memorial Health Institute), Justyna Spychalska(Instytut Hematologii i Transfuzjologi), Małgorzata Uhrynowska(Instytut Hematologii i Transfuzjologi), Rafał Płoski(Medical University of Warsaw), Małgorzata Rydzanicz(Medical University of Warsaw), Hanna Mierzewska, Dorota Piekutowska‐Abramczuk(Children's Memorial Health Institute), Elżbieta Ciara(Children's Memorial Health Institute), Abdul Rahim Said, Marta Szwarc-Bronikowska(Children's Memorial Health Institute), Dariusz Rokicki(Children's Memorial Health Institute), Piotr Buda(Children's Memorial Health Institute), Elżbieta Jurkiewicz(Children's Memorial Health Institute), Małgorzata Krajewska‐Walasek(Children's Memorial Health Institute), Ewa Jamroz(Medical University of Silesia), Joanna Trubicka(Children's Memorial Health Institute)
Cited by 51
Related Papers
A gene (PEX) with homologies to endopeptidases is mutated in patients with X–linked hypophosphatemic rickets
|Nature Genetics|1995|1.1k
Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement
|Nature Reviews Endocrinology|2018|596
GJB2 Mutations and Degree of Hearing Loss: A Multicenter Study
|The American Journal of Human Genetics|2005|562
Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia
|Journal of the American Society of Nephrology|2015|284
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome
|Nature Genetics|2012|244