• <em>FAM111A</em>-Related Skeletal Dysplasias
• 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
• Anaesthetic management of the Kenny-Caffey syndrome using the laryngeal mask
• Bilateral optic atrophy in Kenny's syndrome
• Case report: Late middle-aged features of <em>FAM111A</em> variant, Kenny-Caffey syndrome type 2-suggestive symptoms during a long follow-up
• Case report: Late middle-aged features of FAM111A variant, Kenny-Caffey syndrome type 2-suggestive symptoms during a long follow-up
• Characterization of optical coherence topography findings in Kenny-Caffey syndrome
• Clinical and genetic features of Kenny-Caffey syndrome type 2 with multiple electrolyte disturbances: A case report
• Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological Features
• Compound Heterozygous Variants in <em>FAM111A</em> Cause Autosomal Recessive Kenny-Caffey Syndrome Type 2
• Compound Heterozygous Variants in FAM111A Cause Autosomal Recessive Kenny-Caffey Syndrome Type 2
• Congenital medullary tubular stenosis. A case of Caffey-Kenny syndrome
• Contribution of DNA Replication to the FAM111A-Mediated Simian Virus 40 Host Range Phenotype
• Diaphysary tubular stenosis (Kenny-Caffey's syndrome): presentation of four observations (author's transl)
• Diaphyseal tubular stenosis (Kenny-Caffey syndrome), with hydrocephalus as an associated malformation
• Diverse genetic aetiologies and clinical outcomes of paediatric hypoparathyroidism
• Dwarfism and cortical thickening of tubular bones. Transient hypocalcemia in a mother and son
• Expanding TBCE-related phenotype-novel variant causing rigid spine, eosinophilia, neutropenia, and nocturnal hypoxemia
• Expanding the Phenotypic Spectrum of Kenny-Caffey Syndrome
• Expanding the phenotypic spectrum of Kenny-Caffey syndrome: a case series and systematic literature review
• FAM111 protease activity undermines cellular fitness and is amplified by gain-of-function mutations in human disease
• FAM111A induces nuclear dysfunction in disease and viral restriction
• FAM111A is dispensable for electrolyte homeostasis in mice
• FAM111A mutations result in hypoparathyroidism and impaired skeletal development
• FAM111A regulates replication origin activation and cell fitness
• Functions and evolution of FAM111 serine proteases
• Further delineation of phenotype and genotype of Kenny-Caffey syndrome type 2 (phenotype and genotype of KCS type 2)
• Genetic Screening in a Large Chinese Cohort of Childhood Onset Hypoparathyroidism by Next-Generation Sequencing Combined with TBX1-MLPA
• Genotype-phenotype spectrum in isolated and syndromic nanophthalmos
• Genotypic/phenotypic heterogeneity of Kenny-Caffey syndrome
• Hypoparathyroidism-retardation-dysmorphism syndrome in a girl: A new variant not caused by a TBCE mutation--clinical report and review
• Hypoparathyroidism, retarded growth and development, and dysmorphism or Sanjad-Sakati syndrome: an Arab disease reminiscent of Kenny-Caffey syndrome
• Kenny Caffey syndrome with severe respiratory and gastrointestinal involvement: expanding the clinical phenotype
• Kenny-Caffey syndrome and its related syndromes
• Kenny-Caffey syndrome and microorchidism
• Kenny-Caffey syndrome in six Bedouin sibships: autosomal recessive inheritance is confirmed
• Kenny-Caffey syndrome in two sibs born to consanguineous parents: evidence for an autosomal recessive variant
• Kenny-Caffey syndrome is part of the CATCH 22 haploinsufficiency cluster
• Kenny-Caffey syndrome is part of the CATCH 22 haploinsufficiency cluster
• Kenny-Caffey syndrome type 1
• Kenny-Caffey syndrome type 1 in an Egyptian girl
• Kenny-Caffey syndrome type 2
• Kenny-Caffey Syndrome Type 2: A Unique Presentation and Craniofacial Analysis
• Kenny-Caffey syndrome without the CATCH 22 deletion
• Kenny-Caffey syndrome: an Arab variant?
• Kenny-Caffey Syndrome: oral findings and 4-year follow-up of overlay denture therapy
• Kenny-Caffey syndrome. Case report
• Kenny-Caffey syndrome. Case report and literature review
• Mother and daughter with Kenny-Caffey syndrome: the adult phenotype
• Mother-to-daughter transmission of Kenny-Caffey syndrome associated with the recurrent, dominant FAM111A mutation p.Arg569His
• Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome
• Native tubulin-folding cofactor E purified from baculovirus-infected Sf9 cells dissociates tubulin dimers
• New phenotype with generalized platyspondyly, large mandible, hypoplastic teeth, strabismus, hyperopia and low cholesterol levels
• Ophthalmic features of hypoparathyroidism-retardation-dysmorphism
• Ophthalmologic Impairment and Intellectual Disability in a Girl Presenting Kenny-Caffey Syndrome Type 2
• Oral manifestations of patients with Kenny-Caffey Syndrome
• Oral rehabilitation of a patient with Kenny-Caffey syndrome using telescopic overdenture
• Overlapping phenotype comprising Kenny-Caffey type 2 and Sanjad-Sakati syndromes: The first case report
• Peripapillary choroidal neovascularization associated with kenny syndrome
• Pseudopapilledema in Kenny-Caffey syndrome
• Report of a novel variant in the FAM111A gene in a fetus with multiple anomalies including gracile bones, hypoplastic spleen, and hypomineralized skull
• Role of cofactors B (TBCB) and E (TBCE) in tubulin heterodimer dissociation
• Sanjad-Sakati and autosomal recessive Kenny-Caffey syndromes are allelic: evidence for an ancestral founder mutation and locus refinement
• 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
• Short stature and hypoparathyroidism in a child with Kenny-Caffey syndrome type 2 due to a novel mutation in FAM111A gene
• TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy
• Ten-year use of recombinant parathyroid hormone for the treatment of hypoparathyroidism in a boy with partial Jacobsen syndrome
• The autosomal recessive Kenny-Caffey syndrome locus maps to chromosome 1q42-q43
• The Kenny-Caffey syndrome: growth retardation and hypocalcemia in a young boy
• The role of calcium-sensing receptor signaling in regulating transepithelial calcium transport
• Tracheobronchiomegaly. The Mounier-Kuhn syndrome in a patient with the Kenny-Caffey syndrome
• Unravelling the Intricate Roles of FAM111A and FAM111B: From Protease-Mediated Cellular Processes to Disease Implications
• Unusual cause of hypocalcemic seizures in a neonate
• Unusual cause of short stature
• Whole exome sequencing to identify genetic causes of short stature
• Withdrawn as duplicate: Expanding the phenotypic spectrum of Kenny-Caffey syndrome: a case series and systematic literature review