Articles with "microphthalmia linear" as a keyword



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Microphthalmia, Linear Skin Defects, Callosal Agenesis, and Cleft Palate in a Patient with Deletion at Xp22.3p22.2.

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Published in 2020 at "Journal of pediatric genetics"

DOI: 10.1055/s-0039-3402047

Abstract: The authors describe the clinical findings observed in a Brazilian girl that are suggestive of microphthalmia and linear skin defects (MLS) also known as MIDAS syndrome (OMIM #309801). She also presented with short stature, agenesis… read more here.

Keywords: microphthalmia linear; skin defects; linear skin; cleft palate ... See more keywords
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Microphthalmia with linear skin defects syndrome associated with hypopigmented mosaic lesions and ptosis: two siblings from Africa

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Published in 2020 at "International Journal of Dermatology"

DOI: 10.1111/ijd.14905

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… read more here.

Keywords: microphthalmia linear; syndrome associated; skin defects; linear skin ... See more keywords