A carregar...

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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Case Rep Genet
Main Authors: Mc Cormack, Adrian, Sharpe, Cynthia, Gregersen, Nerine, Smith, Warwick, Hayes, Ian, George, Alice M., Love, Donald R.
Formato: Artigo
Idioma:Inglês
Publicado em: Hindawi Publishing Corporation 2015
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4525753/
https://ncbi.nlm.nih.gov/pubmed/26266063
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2015/192071
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!