| Literature DB >> 10424819 |
J Amiel1, V Cormier-Daire, P Journeau, P Mussat, A Munnich, S Lyonnet.
Abstract
We report on the association of epiphyseal, vertebral, and ear dysplasia in two sisters with normal stature and psychomotor development born to distantly related, healthy parents. This distinctive association has not been reported previously and is likely to represent a new condition with an autosomal recessive mode of inheritance. For this syndrome, we propose the acronym EVE standing for epiphyseal, vertebral, and ear dysplasia.Entities:
Mesh：
Year: 1999 PMID： 10424819 PMCID： PMC1734413
Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318