Refinement of the 12q14 microdeletion syndrome: primordial dwarfism and developmental delay with or without osteopoikilosis

In their studies on the molecular basis of osteopoikilosis, Menten et al have identified three individuals with microdeletions on chromosome 12q14.4, which removed several genes including LEMD3, the osteopoikilosis gene. In addition to osteopoikilosis, affected individuals had growth retardation and...

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Main Authors: Mari, Francesca, Hermanns, Pia, Giovannucci-Uzielli, Maria L, Galluzzi, Fiorella, Scott, Daryl, Lee, Brendan, Renieri, Alessandra, Unger, Sheila, Zabel, Bernhard, Superti-Furga, Andrea
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group 2009
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2986596/
https://ncbi.nlm.nih.gov/pubmed/19277063
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2009.27
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