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Epiphyseal, vertebral, and ear (EVE) dysplasia: a new syndrome?

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 autosom...

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Autori principali: Amiel, J., Cormier-Daire, V., Journeau, P., Mussat, P., Munnich, A., Lyonnet, S.
Natura: Artigo
Lingua:Inglês
Pubblicazione: BMJ Group 1999
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1734413/
https://ncbi.nlm.nih.gov/pubmed/10424819
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