Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome

@article{Pilia1996MutationsIG,
  title={Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome},
  author={Giuseppe Pilia and Rhiannon M. Hughes-Benzie and A. Graham MacKenzie and Primo Baybayan and Ellson Y. Chen and Reid Huber and Giovanni Neri and Antonio Cao and Antonino Forabosco and David Schlessinger},
  journal={Nature Genetics},
  year={1996},
  volume={12},
  pages={241-247}
}
Simpson-Golabi-Behmel syndrome (SGBS) is an X-linked condition characterized by pre-and postnatal overgrowth with visceral and skeletal anomalies. To identify the causative gene, breakpoints in two female patients with X;autosome translocations were identified. The breakpoints occur near the 5′, and 3′, ends of a gene, GPC3, that spans more than 500 kilobases in Xq26; in three families, different microdeletions encompassing exons cosegregate with SGBS. GPC3 encodes a putative extracellular… CONTINUE READING
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