Gnathodiaphyseal dysplasia presenting as polyostotic fibrous dysplasia

Am J Med Genet A. 2015 Jun;167(6):1421-2. doi: 10.1002/ajmg.a.36986. Epub 2015 Apr 10.

Authors

Jaime Vengoechea¹, Lori Carpenter¹

Affiliation

¹ Division of Genetics, University of Arkansas for Medical Sciences College of Medicine, Little Rock, Arkansas.

PMID: 25866257
DOI: 10.1002/ajmg.a.36986

No abstract available

Publication types

Case Reports

MeSH terms

Adult
Anoctamins
Chloride Channels / genetics*
Diagnosis, Differential
Fathers
Fibrous Dysplasia, Polyostotic / diagnosis
Fibrous Dysplasia, Polyostotic / genetics
Fibrous Dysplasia, Polyostotic / pathology
Gene Expression
Humans
Male
Middle Aged
Mutation, Missense*
Osteogenesis Imperfecta / diagnosis*
Osteogenesis Imperfecta / genetics*
Osteogenesis Imperfecta / pathology

Substances

ANO5 protein, human
Anoctamins
Chloride Channels

Supplementary concepts

Osteogenesis imperfecta, Levin type