Infantile systemic hyalinosis: A case report and mutation analysis in a Chinese infant [16]

British Journal of Dermatology

Volumn 156, Issue 3, 2007, Pages 602-604

  Huang, Y C ^a   Xiao, Y Y ^a   Zheng, Y H ^a   Jang, W ^a   Yang, Y L ^a   Zhu, X J ^a  

^a PEKING UNIVERSITY FIRST HOSPITAL   (China)

Author keywords

[No Author keywords available]

Indexed keywords

HYALIN; VON WILLEBRAND FACTOR;

CARBOXY TERMINAL SEQUENCE; CLINICAL FEATURE; EXON; FIBROMATOSIS; GENE MUTATION; HUMAN; LETTER; MORPHOGENESIS; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RECESSIVE INHERITANCE; SKIN BIOPSY;

DNA MUTATIONAL ANALYSIS; HUMANS; HYALIN; INFANT, NEWBORN; MALE; MEMBRANE PROTEINS; MUTATION; SKIN DISEASES, GENETIC;

EID: 33846945385     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2006.07701.x     Document Type: Letter

References (5)

1. Hanks S, Adams S, Douglas J et al. Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis. Am J Hum Genet 2003; 73:791-800.
2. Dowling O, Difeo A, Ramirez MC et al. Mutations in capillary morphogenesis gene-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis. Am J Hum Genet 2003; 73:957-66.
3. Landing BH, Nadorra R. Infantile systemic hyalinosis: report of four cases of a disease, fatal in infancy, apparently different from juvenile systemic hyalinosis. Pediatr Pathol 1986; 6:55-79.
4. Keser G, Karabulut B, Oksel F et al. Two siblings with juvenile hyaline fibromatosis: case reports and review of the literature. Clin Rheumatol 1999; 18:248-52.
5. Bell SE, Mavilla A, Salazar R et al. Differential gene expression during capillary morphogenesis in 3D collagen matrices: regulated expression of genes involved in basement membrane matrix assembly, cell cycle progression, cellular differentiation and G-protein signaling. J Cell Sci 2001; 114:2755-73.