Aicardi-Goutières syndrome type 6: report of ADAR variant and clinical outcome after ruxolitinib treatment in the neonatal period.

Authors: Gabaldon-Albero, Alba, Martin-Grau, Carla, Marti-Masanet, Miguel, Lopez-Jimenez, Alejandro, Llorens, Roberto, Beseler-Soto, Beatriz, Martin-Zamora, Sergio, Lopez, Berta, Calvo, Inmaculada, Hernandez-Muela, Sara, Rosello, Monica, Orellana, Carmen, Martinez, Francisco

Source: Pediatric Rheumatology; 12/28/2024, Vol. 22 Issue 1, p1-7, 7p

Subject Terms: TREATMENT effectiveness, SYMPTOMS, NEUROLOGICAL disorders, KINASE inhibitors, NEONATAL diseases

Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 Caused by a Novel PIGA Variant Not Associated with a Skewed X-Inactivation Pattern.

Authors: Gabaldon-Albero, Alba, Cordon, Lourdes, Sempere, Amparo, Pedrola, Laia, Martin-Grau, Carla, Oltra, Silvestre, Monfort, Sandra, Caro-Llopis, Alfonso, Dominguez-Martinez, Marta, Hernandez-Muela, Sara, Rosello, Monica, Orellana, Carmen, Martinez, Francisco

Source: Genes; Jun2024, Vol. 15 Issue 6, p802, 9p

Subject Terms: GENETIC variation, SYNDROMES, GLYCOSYLPHOSPHATIDYLINOSITOL, GERM cells, BIOSYNTHESIS