Rump, P

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