Mother-to-daughter transmission of Kenny-Caffey syndrome associated with the recurrent, dominantFAM111Amutation p.Arg569His
Author:
Affiliation:
1. Department of Genetics Children's Hospital of Eastern Ontario; Ottawa ON Canada
2. University of Ottawa; Ottawa ON Canada
3. Children's Hospital of Eastern Ontario Research Institute; Ottawa ON Canada
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference8 articles.
1. FAM111A mutations result in hypoparathyroidism and impaired skeletal development;Unger;Am J Hum Genet,2013
2. Identification of FAM111A as an SV40 host range restriction and adenovirus helper factor;Fine;PLoS Pathog,2012
3. Dwarfism and cortical thickening of tubular bones: transient hypocalcemia in a mother and son;Kenny;Am J Dis Child,1966
4. Diaphysary tubular stenosis (Kenny-Caffey's syndrome): presentation of four observations;Sarría;An Esp Pediatr,1980
5. The Kenny syndrome a rare type of growth deficiency with tubular stenosis, transient hypoparathyroidism and anomalies of refraction;Majewski;Eur J Pediatr,1981
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1. Mother and daughter with Kenny-Caffey syndrome: the adult phenotype;European Journal of Medical Genetics;2024-06
2. Further delineation of phenotype and genotype of Kenny–Caffey syndrome type 2 (phenotype and genotype of KCS type 2);Molecular Genetics & Genomic Medicine;2024-04
3. Unravelling the Intricate Roles of FAM111A and FAM111B: From Protease-Mediated Cellular Processes to Disease Implications;International Journal of Molecular Sciences;2024-02-29
4. Clinical and genetic features of Kenny-Caffey syndrome type 2 with multiple electrolyte disturbances: A case report;World Journal of Clinical Cases;2023-04-06
5. Expanding the Phenotypic Spectrum of Kenny–Caffey Syndrome;The Journal of Clinical Endocrinology & Metabolism;2023-03-14
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