Kathryn J Swoboda Rebecca L Margraf John C Carey Holly Zhou Tara M Newcomb Emily Coonrod Jacob Durtschi Kalyan Mallempati Attila Kumanovics Ben E Katz Karl V Voelkerding John M Opitz
10.1002/ajmg.a.36189
Am J Med Genet A
2014 Jan;164A(1):17-28.
ferro-cerebro-cutaneous syndrome pig-a protein piga x-linked cerebellar atrophy encephalopathy epilepsy exome hemochromatosis iron microcephaly neurodegeneration recessive seizures sequencing
author_manuscript
https://pubmed.ncbi.nlm.nih.gov/24259288/
Genetic Diseases, X-Linked / genetics Germ-Line Mutation Heredodegenerative Disorders, Nervous System / genetics Iron Overload / genetics Membrane Proteins / genetics Spasms, Infantile / genetics
Genetic Diseases, X-Linked / genetics Germ-Line Mutation Heredodegenerative Disorders, Nervous System / genetics Iron Overload / genetics Membrane Proteins / genetics Spasms, Infantile / genetics Case Reports Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Amino Acid Sequence Amino Acid Substitution Autopsy Base Sequence Biopsy Brain / pathology Brain / ultrastructure DNA Mutational Analysis Facies Fatal Outcome Genes, X-Linked Genetic Diseases, X-Linked / diagnosis Heredodegenerative Disorders, Nervous System / diagnosis Humans Infant Iron Overload / diagnosis Kidney / pathology Liver / pathology Lymphocytes / ultrastructure Magnetic Resonance Imaging Male Membrane Proteins / chemistry Molecular Sequence Data Pedigree Sequence Alignment Skin / pathology Spasms, Infantile / diagnosis Spleen / pathology Syndrome Membrane Proteins phosphatidylinositol glycan-class A protein
PMC4349522
24259288
A novel germline PIGA mutation in Ferro-Cerebro-Cutaneous syndrome: a neurodegenerative X-linked epileptic encephalopathy with systemic iron-overload
2014