MURCS association
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| MURCS association | |
|---|---|
| Other names | Müllerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome |
 | |
| This condition can be inherited in an autosomal dominant manner(though not always)[1] | |
| Specialty | Medical genetics  |
MURCS association (a variant of Mayer-Rokitansky-Küster-Hauser syndrome) is a very rare developmental disorder[2] that primarily affects the reproductive and urinary systems involving MUllerian agenesis, Renal agenesis, Cervicothoracic Somite abnormalities.[3] It affects only females.
Genetics
Genetic heterogeneity is observed in MURCS association.[4]
Diagnosis
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Treatment
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Notes
- ^ RESERVED, INSERM US14 -- ALL RIGHTS. of diseases=Mayer-Rokitansky-Kuster-Hauser-syndrome-type-2&title=Mayer-Rokitansky-Kuster-Hauser-syndrome-type-2&search=Disease_Search_Simple "Orphanet: Mayer Rokitansky Kuster Hauser syndrome type 2". www.orpha.net. Retrieved 1 August 2017.
{{cite web}}: Check|url=value (help)CS1 maint: numeric names: authors list (link) - ^ "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. Archived from the original on 2013-11-03.
- 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. doi:10.1016/s0046-8177(86)80160-5. PMID 3510965.