| 1 | BLOD, CDMJ, ECDMM1, EKNS, PTH1R |
| Recessive mutations in PTHR1 cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromes. | |
| Duchatelet S, Ostergaard E, Cortes D, Lemainque A, Julier C. | |
| Hum Mol Genet 14(1):1-5. Epub 2004 Nov 3. 2005 | |
| 2 | EKNS |
| A new familial skeletal dysplasia with severely retarded ossification and abnormal modeling of bones especially of the epiphyses, the hands, and feet. | |
| Eiken M, Prag J, Petersen KE, Kaufmann HJ. | |
| Eur J Pediatr 141(4):231-5. 1984 | |