Severe complications in a child with achondroplasia and two FGFR3 mutations on the same allele. [electronic resource]
- American journal of medical genetics. Part A Feb 2006
- 284-90 p. digital
Publication Type: Case Reports; Journal Article
1552-4825
10.1002/ajmg.a.31084 doi
Achondroplasia--complications Alleles Base Sequence DNA Mutational Analysis Fatal Outcome Humans Infant Infant, Newborn Male Mutation Mutation, Missense Receptor, Fibroblast Growth Factor, Type 3--genetics Respiratory Distress Syndrome, Newborn--complications