Delineation variable genotype/phenotype correlations of 6q27 terminal deletion derived from dic(6;18)(q27;p10)

BACKGROUND: Terminal deletion of 6q27 produces a rare syndrome associated with unexplained mental retardation, hypotonia, epilepsy, and multiple malformations. Structural brain malformations are consistently observed, including agenesis of the corpus callosum, hydrocephalus, periventricular nodular...

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Detalles Bibliográficos
Publicado en:Mol Cytogenet
Main Authors: Zhou, Lili, Chen, Chong, Li, Huanzheng, Chen, Yunying, Xu, Xueqin, Lin, Xiaoling, Tang, Shaohua
Formato: Artigo
Idioma:Inglês
Publicado: BioMed Central 2014
Assuntos:
Case Report
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4243269/
https://ncbi.nlm.nih.gov/pubmed/25426168
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-014-0078-3
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