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Microphthalmia, dermal aplasia, and sclerocornea (MIDAS) syndrome, later renamed microphthalmia with linear skin defects (MLS) syndrome due to the absence of dermal aplasia, is inherited in an X-linked manner with… Click to show full abstract
Microphthalmia, dermal aplasia, and sclerocornea (MIDAS) syndrome, later renamed microphthalmia with linear skin defects (MLS) syndrome due to the absence of dermal aplasia, is inherited in an X-linked manner with lethality in males. Structural chromosomal anomalies in individuals with MLS syndrome cause deletion of the HCCS gene which encodes the holocytochrome c synthase involved in apoptosis and oxidative phosphorylation.
Keywords:
microphthalmia linear;
syndrome associated;
skin defects;
linear skin;
defects syndrome
Journal Title: International Journal of Dermatology
Year Published: 2020
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Journal Title: International Journal of Dermatology
Year Published: 2020
Link to full text (if available)
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recommendations!