Microphthalmia–dermal aplasia–sclerocornea syndrome

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Microphthalmia–dermal aplasia–sclerocornea syndrome
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]

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] but mutations in the MCCS gene cause Microphthalmia with Linear Skin Defects Syndrome.[5]

See also[edit]

References[edit]

  1. ^ a b Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0. 
  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. PMID 8267001. doi:10.1002/ajmg.1320470525. 
  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. PMC 1698567Freely accessible. PMID 17033964. doi:10.1086/508474. 
  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. PMC 1698567Freely accessible. PMID 17033964. doi:10.1086/508474. 

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