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Interstitial deletion of 5q33.3q35.1 in a boy with severe mental retardation

Constitutional interstitial deletions of the long arm of chromosome 5 (5q) are quite rare, and the corresponding phenotype is not yet clearly delineated. Severe mental retardation has been described in most patients who present 5q deletions. Specifically, the interstitial deletion of chromosome 5q33...

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Detalles Bibliográficos
Autores principales: Lee, Jin Hwan, Kim, Hyo Jeong, Yoon, Jung Min, Cheon, Eun Jung, Lim, Jae Woo, Ko, Kyong Og, Lee, Gyung Min
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Pediatric Society 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5177704/
https://www.ncbi.nlm.nih.gov/pubmed/28018438
http://dx.doi.org/10.3345/kjp.2016.59.11.S19