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Clinical Immunology, ISSN 1521-6616, 2016, Volume 163, pp. 60 - 65
Abstract Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a monogenic autoimmune disease characterized by early-onset... 
Allergy and Immunology | Autoimmunity | IPEX | Mutation | FOXP3 | Primary immunodeficiency | X-LINKED SYNDROME | ENTEROPATHY | STABILITY | IMMUNOLOGY | IMMUNE DYSREGULATION | DIMER | SEQUENCE | DISEASE | REGULATORY T-CELLS | POLYENDOCRINOPATHY | IMMUNODYSREGULATION | Eczema - genetics | Eczema - immunology | Immune System Diseases - genetics | Humans | Diabetes Mellitus, Type 1 - congenital | Infant | Male | Meningoencephalitis - immunology | Thrombocytopenia - genetics | Immunoglobulin E - immunology | Diarrhea - immunology | Eosinophilia - genetics | Fatal Outcome | Hepatomegaly - immunology | Genetic Diseases, X-Linked - genetics | Diabetes Mellitus, Type 1 - immunology | Dimerization | Hemorrhage - genetics | Sepsis - immunology | Splenomegaly - genetics | Growth Disorders - immunology | Hemorrhage - immunology | Splenomegaly - immunology | Thrombocytopenia - immunology | Immune System Diseases - immunology | Leukocytosis - immunology | Meningoencephalitis - genetics | Diabetes Mellitus, Type 1 - genetics | Models, Molecular | Klebsiella Infections - genetics | Hepatomegaly - genetics | Forkhead Transcription Factors - genetics | Sepsis - genetics | Lung Diseases - immunology | Genetic Diseases, X-Linked - immunology | Immune System Diseases - congenital | Thymus Gland - abnormalities | Lung Diseases - genetics | Eosinophilia - immunology | Diarrhea - genetics | Klebsiella Infections - immunology | Phenylalanine - genetics | Hydrophobic and Hydrophilic Interactions | Growth Disorders - genetics | Leukocytosis - genetics | Index Medicus
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 01/2011, Volume 88, Issue 1, pp. 83 - 91
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 03/2013, Volume 92, Issue 3, pp. 431 - 438
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 12/2015, Volume 97, Issue 6, pp. 848 - 854
Radioulnar synostosis with amegakaryocytic thrombocytopenia (RUSAT) is an inherited bone marrow failure syndrome, characterized by thrombocytopenia and... 
POINT MUTATIONS | MYELOID-TRANSFORMING GENE | ZINC FINGERS | CONGENITAL THROMBOCYTOPENIA | PROTEIN | HOXA11 MUTATION | CELL SELF-RENEWAL | GENETICS & HEREDITY | INTEGRATION SITE 1 | EXPRESSION | BONE-MARROW FAILURE | Synostosis - metabolism | Transcription Factor AP-1 - genetics | Humans | Child, Preschool | Molecular Sequence Data | Ulna - abnormalities | Male | Mutation, Missense | Synostosis - genetics | Transcription Factor AP-1 - metabolism | Exome | Thrombocytopenia - genetics | Proto-Oncogenes - genetics | Base Sequence | Bone Marrow - metabolism | Female | Transcription, Genetic | Radius - metabolism | Child | Protein Structure, Tertiary | Amino Acid Sequence | Signal Transduction | Gene Expression Regulation | Thrombocytopenia - congenital | Models, Molecular | Hematopoiesis - genetics | Radius - abnormalities | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Sequence Analysis, DNA | Thrombocytopenia - metabolism | Animals | Transforming Growth Factor beta - genetics | Ulna - metabolism | Bone Marrow - abnormalities | MDS1 and EVI1 Complex Locus Protein | Transforming Growth Factor beta - metabolism | Musculoskeletal diseases | Genetic disorders | Gene mutations | Causes of | Blood clotting disorders | Genetic aspects | Health aspects | Bone marrow | Genetics | Chromatin | Gene loci | Mutation | Binding sites | Index Medicus | Report
Journal Article
Nature Genetics, ISSN 1061-4036, 05/2013, Volume 45, Issue 5, pp. 531 - 536
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Nature Genetics, ISSN 1061-4036, 05/2015, Volume 47, Issue 5, pp. 535 - 538
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Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 2001, Volume 69, Issue 5, pp. 1033 - 1045
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Human Mutation, ISSN 1059-7794, 02/2014, Volume 35, Issue 2, pp. 236 - 247
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 03/2015, Volume 114, Issue 3, pp. 474 - 482
Journal Article