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Isolated chromosome 8p23.2-pter deletion: Novel evidence for developmental delay, intellectual disability, microcephaly and neurobehavioral disorders

The current study presents a patient carrying a de novo ~6 Mb deletion of the isolated chromosome 8p23.2-pter that was identified with a single-nucleotide polymorphism array. The patient was characterized by developmental delay (DD)/intellectual disability (ID), microcephaly, autism spectrum disorde...

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Detalles Bibliográficos
Autores principales: Shi, Shanshan, Lin, Shaobin, Chen, Baojiang, Zhou, Yi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5865842/
https://www.ncbi.nlm.nih.gov/pubmed/28901431
http://dx.doi.org/10.3892/mmr.2017.7438