Mutation-based growth charts for SEDC and other COL2A1 related dysplasias
2012) AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS. 160C(3). p.205-216 Mark(
- Identification of CANT1 Mutations in Desbuquois Dysplasia
- Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia
- Czech dysplasia metatarsal type: another type II collagen disorder
- Recurrence of achondrogenesis type II within the same family: Evidence for germline mosaicism
- Exclusion of chromosome 9 helps identifying mild variants of acromesomelic dysplasia Maroteaux type.