Mother-to-daughter transmission of Kenny-Caffey syndrome associated with the recurrent, dominant FAM111A mutation p.Arg569His

Clin Genet. 2014 Oct;86(4):394-5. doi: 10.1111/cge.12290. Epub 2013 Oct 23.

Authors

S M Nikkel¹, A Ahmed, A Smith, J Marcadier, D E Bulman, K M Boycott

Affiliation

¹ Department of Genetics Children's Hospital of Eastern Ontario, Ottawa, ON, Canada; University of Ottawa, Ottawa, ON, Canada.

PMID: 24635597
DOI: 10.1111/cge.12290

No abstract available

Publication types

Letter
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Child, Preschool
Dwarfism / genetics*
Dwarfism / pathology
Female
Humans
Hyperostosis, Cortical, Congenital / genetics*
Hyperostosis, Cortical, Congenital / pathology
Hypocalcemia / genetics*
Hypocalcemia / pathology
Infant, Newborn
Mutation
Receptors, Virus / genetics*

Substances

FAM111A protein, human
Receptors, Virus

Supplementary concepts

Kenny-Caffey syndrome, type 2