TY  - GEN
AU  - Rump,P
AU  - Letteboer,T G W
AU  - Gille,J J P
AU  - Torringa,M J L
AU  - Baerts,W
AU  - van Gestel,J P J
AU  - Verheij,J B G M
AU  - van Essen,A J
TI  - Severe complications in a child with achondroplasia and two FGFR3 mutations on the same allele
SN  - 1552-4825
PY  - 2006///0530
KW  - Achondroplasia
KW  - complications
KW  - Alleles
KW  - Base Sequence
KW  - DNA Mutational Analysis
KW  - Fatal Outcome
KW  - Humans
KW  - Infant
KW  - Infant, Newborn
KW  - Male
KW  - Mutation
KW  - Mutation, Missense
KW  - Receptor, Fibroblast Growth Factor, Type 3
KW  - genetics
KW  - Respiratory Distress Syndrome, Newborn
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1002/ajmg.a.31084
ER  -