
		About Site Map Contact Us
	A service of the U.S. National Library of Medicine®
Home Conditions Genes Chromosomes Handbook Glossary Resources

Genetic Conditions > infantile systemic hyalinosis >

References

These sources were used to develop the Genetics Home Reference condition summary on infantile systemic hyalinosis.

Antaya RJ, Cajaiba MM, Madri J, Lopez MA, Ramirez MC, Martignetti JA, Reyes-Múgica M. Juvenile hyaline fibromatosis and infantile systemic hyalinosis overlap associated with a novel mutation in capillary morphogenesis protein-2 gene. Am J Dermatopathol. 2007 Feb;29(1):99-103. PubMed citation
Dowling O, Difeo A, Ramirez MC, Tukel T, Narla G, Bonafe L, Kayserili H, Yuksel-Apak M, Paller AS, Norton K, Teebi AS, Grum-Tokars V, Martin GS, Davis GE, Glucksman MJ, Martignetti JA. Mutations in capillary morphogenesis gene-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis. Am J Hum Genet. 2003 Oct;73(4):957-66. Epub 2003 Sep 12. PubMed citation
Gene Review: Hyalinosis, Inherited Systemic
Hanks S, Adams S, Douglas J, Arbour L, Atherton DJ, Balci S, Bode H, Campbell ME, Feingold M, Keser G, Kleijer W, Mancini G, McGrath JA, Muntoni F, Nanda A, Teare MD, Warman M, Pope FM, Superti-Furga A, Futreal PA, Rahman N. Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis. Am J Hum Genet. 2003 Oct;73(4):791-800. Epub 2003 Aug 21. PubMed citation
Lindvall LE, Kormeili T, Chen E, Ramirez MC, Grum-Tokars V, Glucksman MJ, Martignetti JA, Zaragoza MV, Dyson SW. Infantile systemic hyalinosis: Case report and review of the literature. J Am Acad Dermatol. 2008 Feb;58(2):303-7. doi: 10.1016/j.jaad.2007.06.008. Review. PubMed citation
Orphanet

Reviewed: December 2008

Published: May 20, 2013