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Disease: Kenny-Caffey syndrome- Type 1

  • A recurrent de novo FAM111A mutation causes Kenny-Caffey syndrome type 2
  • Adult Chinese twins with Kenny-Caffey syndrome type 2: A potential age-dependent phenotype and review of literature
  • Compound Heterozygous Variants in <em>FAM111A</em> Cause Autosomal Recessive Kenny-Caffey Syndrome Type 2
  • Contribution of DNA Replication to the FAM111A-Mediated Simian Virus 40 Host Range Phenotype
  • Diverse genetic aetiologies and clinical outcomes of paediatric hypoparathyroidism
  • Expanding the Phenotypic Spectrum of Kenny-Caffey Syndrome
  • FAM111A induces nuclear dysfunction in disease and viral restriction
  • FAM111A is dispensable for electrolyte homeostasis in mice
  • Genetic Screening in a Large Chinese Cohort of Childhood Onset Hypoparathyroidism by Next-Generation Sequencing Combined with TBX1-MLPA
  • Kenny-Caffey syndrome and its related syndromes
  • Kenny-Caffey syndrome type 1
  • Kenny-Caffey syndrome type 1 in an Egyptian girl
  • Native tubulin-folding cofactor E purified from baculovirus-infected Sf9 cells dissociates tubulin dimers
  • Pseudopapilledema in Kenny-Caffey syndrome
  • Sanjad-Sakati syndrome/Kenny-Caffey syndrome type 1: a study of 21 cases in Kuwait
  • Short stature and hypoparathyroidism in a child with Kenny-Caffey syndrome type 2 due to a novel mutation in <em>FAM111A</em> gene
  • The role of calcium-sensing receptor signaling in regulating transepithelial calcium transport
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