Czech dysplasia: report of a large family and further delineation of the phenotype.

Tzschach, Andreas

Czech dysplasia: report of a large family and further delineation of the phenotype. [electronic resource] - American journal of medical genetics. Part A Jul 2008 - 1859-64 p. digital

Publication Type: Case Reports; Journal Article

1552-4833

10.1002/ajmg.a.32389 doi


Adolescent
Adult
Aged
Bone Diseases, Developmental--genetics
Child
Child, Preschool
Collagen Type II--genetics
Czech Republic
Female
Genes, Dominant
Hearing Loss, Sensorineural--genetics
Humans
Male
Middle Aged
Mutation, Missense
Pedigree
Phenotype
Syndrome