The 12q14 microdeletion syndrome: additional patients and further evidence that HMGA2 is an important genetic determinant for human height
K Buysse, W Reardon, L Mehta, T Costa… - European Journal of …, 2009 - Elsevier
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 …
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 …