Publications

Casas-Alba D, et al. Hyaline fibromatosis syndrome: Clinical update and phenotype-genotype correlations. Hum Mutat. 2018;39(12):1752-1763. PMID: 30176098

Cozma C, et al. Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome. Orphanet J Rare Dis. 2019;14(1):209. PMID: 31455396

Hanks S, et al. Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis. Am J Hum Genet. 2003;73(4):791-800.

Denadai R, et al. Identification of 2 novel ANTXR2 mutations in patients with hyaline fibromatosis syndrome and proposal of a modified grading system. Am J Med Genet A. 2012;158A(4):732-742. PMID: 22383261