Infantile systemic hyalinosis associated with a putative splice-site mutation in the ANTXR2 gene.

@article{Fong2012InfantileSH,
  title={Infantile systemic hyalinosis associated with a putative splice-site mutation in the ANTXR2 gene.},
  author={Kenneth T Fong and Akella Radha Rama Devi and Joey E. Lai-Cheong and Dinesh Kumar Chirla and Sitansu Kumar Panda and Lu Liu and Isabella Tosi and J A McGrath},
  journal={Clinical and experimental dermatology},
  year={2012},
  volume={37 6},
  pages={635-8}
}
Infantile systemic hyalinosis (ISH) is a rare autosomal recessive genetic disorder characterized by dermal and subcutaneous fibromatosis, joint contractures and bone deformities. The condition usually presents at birth, resulting in death in infancy. ISH is caused by mutations in the anthrax toxin receptor 2 gene, ANTXR2, also known as CMG2. We report an Indian child with ISH in whom we identified a homozygous acceptor splice site mutation, IVS2-4G>A. In silico analysis of this sequence showed… CONTINUE READING
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Infantile systemic hyalinosis.

Journal of the American Academy of Dermatology • 2004

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