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