Microphthalmia–dermal aplasia–sclerocornea syndrome
Microphthalmia–dermal aplasia–sclerocornea syndrome | |
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Classification and external resources | |
OMIM | 309801 |
GeneReviews |
Microphthalmia–dermal aplasia–sclerocornea syndrome (also known as "MIDAS syndrome"[1]) is a condition characterized by linear skin lesions.[1][2]
It can be associated with HCCS.[3]
See also
References
- ↑ 1.0 1.1 Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0.
- ↑ Happle, R.; Daniëls, O.; Koopman, R. J. J. (1993). "MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea): an X-linked phenotype distinct from Goltz syndrome". American Journal of Medical Genetics 47 (5): 710–3. doi:10.1002/ajmg.1320470525. PMID 8267001.
- ↑ Wimplinger I, Morleo M, Rosenberger G et al. (November 2006). "Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome". Am. J. Hum. Genet. 79 (5): 878–89. doi:10.1086/508474. PMC 1698567. PMID 17033964.