Microdeletion of 6q16.1 encompassing EPHA7 in a child with mild neurological abnormalities and dysmorphic features: case report

BACKGROUND: Of the fewer than 100 cases reported within the literature of constitutional deletions involving the long arm of chromosome 6, only five have been characterized using high-resolution microarray analysis. Reported 6q deletion patients show a high incidence of mental retardation, ear anoma...

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Detalles Bibliográficos
Autores principales: Traylor, Ryan N, Fan, Zheng, Hudson, Beth, Rosenfeld, Jill A, Shaffer, Lisa G, Torchia, Beth S, Ballif, Blake C
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2009
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2731778/
https://www.ncbi.nlm.nih.gov/pubmed/19664229
http://dx.doi.org/10.1186/1755-8166-2-17

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2731778/
https://www.ncbi.nlm.nih.gov/pubmed/19664229
http://dx.doi.org/10.1186/1755-8166-2-17

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