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. 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
2. Expanding the Phenotypic Spectrum of Kenny–Caffey Syndrome;The Journal of Clinical Endocrinology & Metabolism;2023-03-14
3. Case report: Late middle-aged features of FAM111A variant, Kenny–Caffey syndrome type 2-suggestive symptoms during a long follow-up;Frontiers in Endocrinology;2023-01-04
4. Functions and evolution of FAM111 serine proteases;Frontiers in Molecular Biosciences;2022-12-15
5. FAM111A is dispensable for electrolyte homeostasis in mice;Scientific Reports;2022-06-17
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