Juvenile hyaline fibromatosis

Journal of Postgraduate Medicine

Volumn 50, Issue 2, 2004, Pages 125-126

  Nischal, K C ^a   Sachdev, D ^a   Kharkar, V ^a   Mahajan, S ^a  

^a KEM HOSPITAL   (India)

Author keywords

[No Author keywords available]

Indexed keywords

HYALIN; MUCIN;

ARTICLE; BODY HEIGHT; BODY WEIGHT; CASE REPORT; CHILD; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CONSANGUINEOUS MARRIAGE; DEVELOPMENTAL DISORDER; FEMALE; FIBROMATOSIS; FLEXION CONTRACTURE; GINGIVA HYPERPLASIA; HEAD CIRCUMFERENCE; HUMAN; HUMAN TISSUE; JOINT CONTRACTURE; LANGUAGE DISABILITY; MALNUTRITION; MENTAL RETARDATION MALFORMATION SYNDROME; PATIENT COUNSELING; PHYSICAL EXAMINATION; PHYSIOTHERAPY; SKIN DEFECT; SKULL RADIOGRAPHY; SURGICAL TECHNIQUE;

ABNORMALITIES, MULTIPLE; CONSANGUINITY; FEMALE; FIBROMA; HUMANS; HYALIN; INFANT; SKIN NEOPLASMS;

EID: 4043065116     PISSN: 00223859     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (5)

1. Rahman N, Dustan M, Teare MD, Hanks S, Edkins SJ, Hughes J, et al. The gene for Juvenile Hyaline Fibromatosis maps to 4q21. Am J Hum Genet 2002;71:975-80.
2. Bigler C, Burgdorf WHC. Benign neoplasm, premalignant conditions and malignancy. In: Schachner LA, Hansen RC, editors. Pediatric Dermatology. 2nd edn. New York: Churchill Livingstone Inc; 1995. p. 998-1001.
3. Breier F, Fang-Kircher S, Wolff K, Jurecka W. Juvenile hyaline fibromatosis: impaired collagen metabolism in human skin fibroblasts. Arch Dis Child 1997;77: 436-40.
4. Hanks S, Adams S, Douglas J, Arbour L, Atherton DJ, Balci 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;73:791-800.
5. Dowling O, Difeo A, Ramirez MC, Tukel T, Narla G, Bonafe L, 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.