Article
Mild achondroplasia/hypochondroplasia with acanthosis nigricans, normal development, and a p.Ser348Cys FGFR3 mutation.
American journal of medical genetics. Part A - 1 Apr 2017
Couser Natario L, Pande Chetna K, Turcott Christie M, Spector Elaine B, Aylsworth Arthur S, Powell Cynthia M
Abstract excerpt
Pathogenic allelic variants in the fibroblast growth factor receptor 3 (FGFR3) gene have been associated with a number of phenotypes including achondroplasia, hypochondroplasia, thanatophoric dysplasia, Crouzon syndrome with acanthosis nigricans (Crouzonodermoskeletal syndrome), and SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans). Crouzon syndrome with acanthosis nigricans is...
Topics
- Acanthosis Nigricans
- Achondroplasia
- Bone and Bones
- Child
- DNA Mutational Analysis
- Dwarfism
- Gene Expression
- Humans
- Limb Deformities, Congenital
- Lordosis
- Male