Article
Somatic CTNNB1 mutation in hepatoblastoma from a patient with Simpson-Golabi-Behmel syndrome and germline GPC3 mutation.
American journal of medical genetics. Part A - 1 Apr 2014
Kosaki Rika, Takenouchi Toshiki, Takeda Noriko, Kagami Masayo, Nakabayashi Kazuhiko, Hata Kenichiro, Kosaki Kenjiro
Abstract excerpt
Simpson-Golabi-Behmel syndrome is a rare overgrowth syndrome caused by the GPC3 mutation at Xq26 and is clinically characterized by multiple congenital abnormalities, intellectual disability, pre/postnatal overgrowth, distinctive craniofacial features, macrocephaly, and organomegaly. Although this syndrome is known to be associated with a risk for embryonal tumors, similar to other overgrowth syndromes, the...
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