TY  - GEN
AU  - Kamoun-Goldrat,Agnès
AU  - Pannier,Stéphanie
AU  - Huber,Céline
AU  - Finidori,Georges
AU  - Munnich,Arnold
AU  - Cormier-Daire,Valérie
AU  - Le Merrer,Martine
TI  - A new osteogenesis imperfecta with improvement over time maps to 11q
SN  - 1552-4833
PY  - 2008///0820
KW  - Adult
KW  - Child
KW  - Chromosome Mapping
KW  - Chromosomes, Human, Pair 11
KW  - genetics
KW  - Collagen
KW  - Collagen Type I
KW  - Collagen Type I, alpha 1 Chain
KW  - Consanguinity
KW  - Female
KW  - Genes, Recessive
KW  - Genotype
KW  - Homozygote
KW  - Humans
KW  - Male
KW  - Mutation
KW  - Osteogenesis Imperfecta
KW  - classification
KW  - Pedigree
KW  - Phenotype
KW  - Radiography
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1002/ajmg.a.32379
ER  -