H00495 | |
H number | H00495 |
Name | Eiken dysplasia |
Description | Eiken dysplasia is an extremely rare form of multiple epiphyseal dysplasia. It is caused by a homozygous nonsense mutation in the PTHR1 gene. |
Category | Congenital malformation |
Network | - |
Gene | PTHR1 [HSA:5745] [KO:K04585] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: LD24.6 MeSH: C564010 OMIM: 600002 |
Reference | PMID:15525660 AUTHORS Duchatelet S, Ostergaard E, Cortes D, Lemainque A, Julier C TITLE Recessive mutations in PTHR1 cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromes. JOURNAL Hum Mol Genet 14:1-5 (2005) DOI:10.1093/hmg/ddi001 |