Microphthalmia–dermal aplasia–sclerocornea syndrome explained
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. It can be associated with HCCS,[3] mutations in it cause microphthalmia with Linear Skin Defects Syndrome.[4]
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Notes and References
- Book: Rapini, Ronald P. . Bolognia, Jean L. . Jorizzo, Joseph L. . Dermatology: 2-Volume Set . Mosby . St. Louis . 2007 . 978-1-4160-2999-1 .
- 5 . 47 . 710–3 . 1993 . 10.1002/ajmg.1320470525 . 8267001 . American Journal of Medical Genetics . MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea): an X-linked phenotype distinct from Goltz syndrome . Daniëls . R. . O. . Koopman . R. J. J. . Happle.
- Wimplinger I, Morleo M, Rosenberger G, etal . 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 . November 2006 . 17033964 . 1698567 . 10.1086/508474 .
- Wimplinger I, Morleo M, Rosenberger G, Iaconis D, Orth U, Meinecke P, Lerer I, Ballabio A, Gal A, Franco B, Kutsche K . 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 . 2006 . 17033964 . 1698567 . 10.1086/508474 .