p.Ser348Cys mutation in FGFR3 gene leads to "Mild ACH /Severe HCH" phenotype. [electronic resource]
Producer: 20201019Description: 103659 p. digitalISSN:- 1878-0849
- Acanthosis Nigricans
- Achondroplasia -- diagnosis
- Amino Acid Sequence
- Bone and Bones -- abnormalities
- Dwarfism -- diagnosis
- Heterozygote
- Humans
- Hyperinsulinism
- Infant
- Limb Deformities, Congenital -- diagnosis
- Lordosis -- congenital
- Male
- Phenotype
- Point Mutation
- Protein Domains
- Receptor, Fibroblast Growth Factor, Type 3 -- blood
- Sequence Analysis, DNA
No physical items for this record
Publication Type: Case Reports; Journal Article
There are no comments on this title.
Log in to your account to post a comment.