The 12q14 microdeletion syndrome: additional patients and further evidence that HMGA2 is an important genetic determinant for human height. Buysse, K.; Reardon, W.; Mehta, L.; Costa, T.; Fagerstrom, C.; Kingsbury, D. J; Anadiotis, G.; McGillivray, B. C; Hellemans, J.; Leeuw, N.; Vries, B. B A; Speleman, F.; Menten, B.; and Mortier, G. European journal of medical genetics, 52(2-3):101--7.
The 12q14 microdeletion syndrome: additional patients and further evidence that HMGA2 is an important genetic determinant for human height. [link]Paper  abstract   bibtex   
Characteristic features of the 12q14 microdeletion syndrome include low birth weight, failure to thrive, short stature, learning disabilities and Buschke-Ollendorff lesions in bone and skin. This report on two additional patients with this microdeletion syndrome emphasizes the rather constant and uniform phenotype encountered in this disorder and refines the critical region to a 2.61 Mb interval on 12q14.3, encompassing 10 RefSeq genes. We have previously shown that LEMD3 haploinsufficiency is responsible for the Buschke-Ollendorff lesions and now provide strong evidence that a heterozygous deletion of HMGA2 is causing the growth failure observed in this disorder. The identification of an intragenic HMGA2 deletion in a boy with proportionate short stature and the cosegregation of this deletion with reduced adult height in the extended family of the boy further underscore the role of HMGA2 in regulating human linear growth.
@article{ Buysse,
  author    = {Karen Buysse and William Reardon and Lakshmi Mehta and Teresa Costa and Carrie Fagerstrom and Daniel J Kingsbury and George Anadiotis and Barbara C McGillivray and Jan Hellemans and Nicole Leeuw and Bert B A Vries and Frank Speleman and Björn Menten and Geert Mortier},
  title     = {The 12q14 microdeletion syndrome: additional patients and further evidence that HMGA2 is an important genetic determinant for human height.},
  journal   = {European journal of medical genetics}, 
  abstract   = {Characteristic features of the 12q14 microdeletion syndrome include low birth weight, failure to thrive, short stature, learning disabilities and Buschke-Ollendorff lesions in bone and skin. This report on two additional patients with this microdeletion syndrome emphasizes the rather constant and uniform phenotype encountered in this disorder and refines the critical region to a 2.61 Mb interval on 12q14.3, encompassing 10 RefSeq genes. We have previously shown that LEMD3 haploinsufficiency is responsible for the Buschke-Ollendorff lesions and now provide strong evidence that a heterozygous deletion of HMGA2 is causing the growth failure observed in this disorder. The identification of an intragenic HMGA2 deletion in a boy with proportionate short stature and the cosegregation of this deletion with reduced adult height in the extended family of the boy further underscore the role of HMGA2 in regulating human linear growth.},
  issn   = {1878-0849},
  pages   = {101--7},
  volume   = {52},
  number   = {2-3},
  url   = {http://www.ncbi.nlm.nih.gov/pubmed/19298872}
}
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