MURCS association
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MURCS association (a variant of Mayer-Rokitansky-Küster-Hauser syndrome) is a very rare developmental disorder[1] that primarily affects the reproductive and urinary systems involving MUllerian agenesis, Renal agenesis, Cervicothoracic Somite abnormalities.[2] It affects only females.
Genetics
Genetic heterogeneity is observed in MURCS association.[3]
Notes
- ^ "MURCS association". Genetic and Rare Diseases Information Center (GARD). Retrieved 1 November 2013.
- ^ Mahajan, P; Kher, A; Khungar, A; Bhat, M; Sanklecha, M; Bharucha, BA (Jul–Sep 1992). "MURCS association--a review of 7 cases". Journal of postgraduate medicine. 38 (3): 109–11. PMID 1303407.
- ^ Hofstetter, G; Concin, N; Marth, C; Rinne, T; Erdel, M; Janecke, A (2008). "Genetic analyses in a variant of Mayer-Rokitansky-Kuster-Hauser syndrome (MURCS association)". Wiener klinische Wochenschrift. 120 (13–14): 435–9. doi:10.1007/s00508-008-0995-4. PMID 18726671.
References
- "MURCS Association". National Organization for Rare Disorders, Inc.
- Duncan, PA; Shapiro, LR; Stangel, JJ; Klein, RM; Addonizio, JC (September 1979). "The MURCS association: Müllerian duct aplasia, renal aplasia, and cervicothoracic somite dysplasia". The Journal of Pediatrics. 95 (3): 399–402. doi:10.1016/s0022-3476(79)80514-4. PMID 469663.
- Greene, RA; Bloch, MJ; Huff, DS; Iozzo, RV (January 1986). "MURCS association with additional congenital anomalies". Human pathology. 17 (1): 88–91. PMID 3510965.