Microphthalmia–dermal aplasia–sclerocornea syndrome

Microphthalmia–dermal aplasia–sclerocornea syndrome
Other namesMIDAS syndrome[1]

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. 1 2 Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
  2. ↑ 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.
  3. ↑ Linear Skin Defects with Multiple Congenital Anomalies
  4. ↑ 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.
  5. ↑ 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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