TY  - GEN
AU  - Mackenroth,Luisa
AU  - Rump,Andreas
AU  - Lorenz,Peter
AU  - Schröck,Evelin
AU  - Tzschach,Andreas
TI  - Novel ADAMTSL2-mutations in a patient with geleophysic dysplasia type I
SN  - 1473-5717
PY  - 2017///0206
KW  - ADAMTS Proteins
KW  - genetics
KW  - Alleles
KW  - Bone Diseases, Developmental
KW  - diagnosis
KW  - DNA Mutational Analysis
KW  - Genetic Association Studies
KW  - Genotype
KW  - Humans
KW  - Infant
KW  - Limb Deformities, Congenital
KW  - Male
KW  - Mutation
KW  - Phenotype
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1097/MCD.0000000000000124
ER  -