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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Detalles Bibliográficos
Autores principales: Gould, Douglas B, Jaafar, Mohamad S, Addison, Mark K, Munier, Francis, Ritch, Robert, MacDonald, Ian M, Walter, Michael A
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2004
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC455682/
https://www.ncbi.nlm.nih.gov/pubmed/15219231
http://dx.doi.org/10.1186/1471-2350-5-17

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC455682/
https://www.ncbi.nlm.nih.gov/pubmed/15219231
http://dx.doi.org/10.1186/1471-2350-5-17

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