Article
12q14 microdeletion syndrome and short stature with or without relative macrocephaly.
American journal of medical genetics. Part A - 1 Oct 2012
Takenouchi Toshiki, Enomoto Keisuke, Nishida Toshihiko, Torii Chiharu, Okazaki Tadaharu, Takahashi Takao, Kosaki Kenjiro
Abstract excerpt
Patients with 12q14 microdeletion can present with short stature with or without relative macrocephaly. When associated with relative macrocephaly, the phenotype resembles Silver-Russell syndrome (SRS). Short stature is attributable to haploinsufficiency of HMGA2, but a patient with a deletion at the HMGA2 locus only did not have macrocephaly. Hence, the presence of a separate locus for a relative macrocephaly...
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