Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14

This report presents the detection of a heterozygous deletion at chromosome 12q14 in three unrelated patients with a similar phenotype consisting of mild mental retardation, failure to thrive in infancy, proportionate short stature and osteopoikilosis as the most characteristic features. In each cas...

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Detalhes bibliográficos
Main Authors: Menten, Björn, Buysse, Karen, Zahir, Farah, Hellemans, Jan, Hamilton, Sara J, Costa, Teresa, Fagerstrom, Carrie, Anadiotis, George, Kingsbury, Daniel, McGillivray, Barbara C, Marra, Marco A, Friedman, Jan M, Speleman, Frank, Mortier, Geert
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2007
Assuntos:
Short Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2598049/
https://ncbi.nlm.nih.gov/pubmed/17220210
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2006.047860
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