12q14 Microdeletions: Additional Case Series with Confirmation of a Macrocephaly Region

To date, there have been only a few reports of patients carrying a microdeletion in chromosome 12q14. These patients usually present with pre- and postnatal growth retardation, and developmental delay. Here we report on two additional patients with both genotype and phenotype differences. Similar to...

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Detalles Bibliográficos
Autores principales: Mc Cormack, Adrian, Sharpe, Cynthia, Gregersen, Nerine, Smith, Warwick, Hayes, Ian, George, Alice M., Love, Donald R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4525753/
https://www.ncbi.nlm.nih.gov/pubmed/26266063
http://dx.doi.org/10.1155/2015/192071

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4525753/
https://www.ncbi.nlm.nih.gov/pubmed/26266063
http://dx.doi.org/10.1155/2015/192071

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