From Wikipedia, the free encyclopedia
Medical condition
Microphthalmia–dermal aplasia–sclerocornea syndrome Other names MIDAS 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
^
a
b 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 .
External links
Classification External resources