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

• Autores principales: Ritch Robert (Autor), Munier Francis (Autor), Addison Mark K (Autor), Jaafar Mohamad S (Autor), Gould Douglas B (Autor), MacDonald Ian M (Autor), Walter Michael A (Autor)
• Formato: Libro
• Publicado: BMC, 2004-06-01T00:00:00Z.
• Materias: article
• Acceso en línea: Connect to this object online.

<p>Abstract</p> <p>Background</p> <p>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 hydroceph...