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LIN7A Depletion Disrupts Cerebral Cortex Development, Contributing to Intellectual Disability in 12q21-Deletion Syndrome

Interstitial deletion of 12q21 has been reported in four cases, which share several common clinical features, including intellectual disability (ID), low-set ears, and minor cardiac abnormalities. Comparative genomic hybridization (CGH) analysis using the Agilent Human Genome CGH 180K array was perf...

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Detalles Bibliográficos
Autores principales: Matsumoto, Ayumi, Mizuno, Makoto, Hamada, Nanako, Nozaki, Yasuyuki, Jimbo, Eriko F., Momoi, Mariko Y., Nagata, Koh-ichi, Yamagata, Takanori
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3962435/
https://www.ncbi.nlm.nih.gov/pubmed/24658322
http://dx.doi.org/10.1371/journal.pone.0092695