title: Mother-to-daughter transmission of Kenny-Caffey syndrome associated with the recurrent, dominant FAM111A mutation p.Arg569His.
authors.affiliation: Department of Genetics Children's Hospital of Eastern Ontario, Ottawa, ON, Canada; University of Ottawa, Ottawa, ON, Canada.
authors.forename: S M
authors.initials: SM
authors.lastname: Nikkel
authors.forename: A
authors.initials: A
authors.lastname: Ahmed
authors.forename: A
authors.initials: A
authors.lastname: Smith
authors.forename: J
authors.initials: J
authors.lastname: Marcadier
authors.forename: D E
authors.initials: DE
authors.lastname: Bulman
authors.forename: K M
authors.initials: KM
authors.lastname: Boycott
mesh_terms: D000328:Adult; D002675:Child, Preschool; D004392:Dwarfism / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D006958:Hyperostosis, Cortical, Congenital / Q000235:genetics* / Q000473:pathology; D006996:Hypocalcemia / Q000235:genetics* / Q000473:pathology; D007231:Infant, Newborn; D009154:Mutation; D011991:Receptors, Virus / Q000235:genetics*
chemical_list: C579415:FAM111A protein, human; D011991:Receptors, Virus