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Phenotypic and molecular assessment of seven patients with 6p25 deletion syndrome: Relevance to ocular dysgenesis and hearing impairment

BACKGROUND: Thirty-nine patients have been described with deletions involving chromosome 6p25. However, relatively few of these deletions have had molecular characterization. Common phenotypes of 6p25 deletion syndrome patients include hydrocephalus, hearing loss, and ocular, craniofacial, skeletal,...

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Main Authors: Gould, Douglas B, Jaafar, Mohamad S, Addison, Mark K, Munier, Francis, Ritch, Robert, MacDonald, Ian M, Walter, Michael A
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2004
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC455682/
https://ncbi.nlm.nih.gov/pubmed/15219231
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-5-17
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