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Autosomal dominant asymmetrical radial dysplasia, dysmorphic facies, and conductive hearing loss (facioauriculoradial dysplasia)

A syndrome characterised by asymmetrical radial dysplasia, dysmorphic facies, conductive deafness, and external ear deformity is described in a mother and her daughter. This combination of anomalies has previously been reported in members of a single family. The disorder appears to be clinically and...

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Autors principals: Harding, A E, Hall, C M, Baraitser, M
Format: Artigo
Idioma:Inglês
Publicat: 1982
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1048839/
https://ncbi.nlm.nih.gov/pubmed/7077621
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