Microphthalmia–dermal aplasia–sclerocornea syndrome
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| Microphthalmia–dermal aplasia–sclerocornea syndrome | |
|---|---|
| Other names | MIDAS syndrome[1] |
 | |
| This condition is inherited in an X-linked dominant manner. | |
| Specialty | Medical genetics |
Microphthalmia–dermal aplasia–sclerocornea syndrome is a condition characterized by linear skin lesions.[1][2] MLS is a rare X-linked dominant male-lethal disease characterized by unilateral or bilateral microphthalmia and linear skin defects in affected females, and in utero lethality for affected males.[3] It can be associated with HCCS,[4] mutations in it cause microphthalmia with Linear Skin Defects Syndrome.[5]
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 978-1-4160-2999-1.
- ↑ 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.
- ↑ Linear Skin Defects with Multiple Congenital Anomalies
- ↑ 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.
- ↑ Wimplinger I, Morleo M, Rosenberger G, Iaconis D, Orth U, Meinecke P, Lerer I, Ballabio A, Gal A, Franco B, Kutsche K (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.
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