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- Autoimmune Polyglandular Syndrome Type 1 in Russian Patients: Clinical Variants and Autoimmune Regulator Mutations
- FOXN1 Italian founder mutation in Indian family: Implications in prenatal diagnosis
- Human FOXN1-Deficiency Is Associated with αβ Double-Negative and FoxP3+ T-Cell Expansions That Are Distinctly Modulated upon Thymic Transplantation
- Expanding the Nude SCID/CID Phenotype Associated with FOXN1 Homozygous, Compound Heterozygous, or Heterozygous Mutations
- Alymphoid cystic thymic dysgenesis - FOXN1 gene mutation: a rare case report of two siblings
- Autoimmune polyendocrine syndrome type 1: an Italian survey on 158 patients
- The nude gene and the skin
- Riboflavin-responsive glutaryl CoA dehydrogenase deficiency
- Genotype-Phenotype Delineation of Autoimmune Polyendocrinopathy, Candidiasis, and Ectodermal Dystrophy in a Pediatric Patient: A Case Report
- Learning from nudity: lessons from the nude phenotype
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