TY  - GEN
AU  - Tzschach,Andreas
AU  - Tinschert,Sigrid
AU  - Kaminsky,Elke
AU  - Lusga,Eugen
AU  - Mundlos,Stefan
AU  - Graul-Neumann,Luitgard M
TI  - Czech dysplasia: report of a large family and further delineation of the phenotype
SN  - 1552-4833
PY  - 2008///0820
KW  - Adolescent
KW  - Adult
KW  - Aged
KW  - Bone Diseases, Developmental
KW  - genetics
KW  - Child
KW  - Child, Preschool
KW  - Collagen Type II
KW  - Czech Republic
KW  - Female
KW  - Genes, Dominant
KW  - Hearing Loss, Sensorineural
KW  - Humans
KW  - Male
KW  - Middle Aged
KW  - Mutation, Missense
KW  - Pedigree
KW  - Phenotype
KW  - Syndrome
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1002/ajmg.a.32389
ER  -