These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
5. Infantile systemic hyalinosis: newly recognized disorder of collagen? Glover MT; Lake BD; Atherton DJ Pediatrics; 1991 Feb; 87(2):228-34. PubMed ID: 1702887 [TBL] [Abstract][Full Text] [Related]
6. Mutations in capillary morphogenesis gene-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis. 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 Am J Hum Genet; 2003 Oct; 73(4):957-66. PubMed ID: 12973667 [TBL] [Abstract][Full Text] [Related]
7. Infantile systemic hyalinosis associated with a putative splice-site mutation in the ANTXR2 gene. Fong K; Rama Devi AR; Lai-Cheong JE; Chirla D; Panda SK; Liu L; Tosi I; McGrath JA Clin Exp Dermatol; 2012 Aug; 37(6):635-8. PubMed ID: 22300424 [TBL] [Abstract][Full Text] [Related]
8. Juvenile hyaline fibromatosis and infantile systemic hyalinosis: a unifying term and a proposed grading system. Nofal A; Sanad M; Assaf M; Nofal E; Nassar A; Almokadem S; Attwa E; Elmosalamy K J Am Acad Dermatol; 2009 Oct; 61(4):695-700. PubMed ID: 19344977 [TBL] [Abstract][Full Text] [Related]
9. [Infantile systemic hyalinosis: a case report and literature review]. Lu J; Li J; Lin FY Zhonghua Er Ke Za Zhi; 2016 Dec; 54(12):946-949. PubMed ID: 27938598 [No Abstract] [Full Text] [Related]
10. Systemic hyalinosis mutations in the CMG2 ectodomain leading to loss of function through retention in the endoplasmic reticulum. Deuquet J; Abrami L; Difeo A; Ramirez MC; Martignetti JA; van der Goot FG Hum Mutat; 2009 Apr; 30(4):583-9. PubMed ID: 19191226 [TBL] [Abstract][Full Text] [Related]
11. Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis. 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 Am J Hum Genet; 2003 Oct; 73(4):791-800. PubMed ID: 14508707 [TBL] [Abstract][Full Text] [Related]
12. Exuberant juvenile hyaline fibromatosis in two patients. Muniz ML; Lobo AZ; Machado MC; Valente NY; Kim CA; Lourenço SV; Nico MM Pediatr Dermatol; 2006; 23(5):458-64. PubMed ID: 17014642 [TBL] [Abstract][Full Text] [Related]
13. A novel splice site mutation in ANTXR2 (CMG2) gene results in systemic hyalinosis. Wang YY; Wen CQ; Wei Z; Jin X J Pediatr Hematol Oncol; 2011 Dec; 33(8):e355-7. PubMed ID: 22042284 [TBL] [Abstract][Full Text] [Related]
14. A rare cause of protein-losing enteropathy and growth retardation in infancy: infantile systemic hyalinosis. Büyükgebiz B; Oztürk Y; Arslan N; Ozer E Turk J Pediatr; 2003; 45(3):258-60. PubMed ID: 14696808 [TBL] [Abstract][Full Text] [Related]
15. Infantile systemic hyalinosis: a case report and mutation analysis in a Chinese infant. Huang YC; Xiao YY; Zheng YH; Jang W; Yang YL; Zhu XJ Br J Dermatol; 2007 Mar; 156(3):602-4. PubMed ID: 17300268 [No Abstract] [Full Text] [Related]