Weill-Marchesani syndrome: A rare cause of ectopia lentis and short stature
Background: Weill-Marchesani syndrome (WMS) is a rare heritable connective disorder characterized by short stature, brachydactyly, stiff joints and distinctive ocular manifestations of microspherophakia, myopia, ectopia lentis, and glaucoma. It is caused by either biallelic pathogenic variants in AD...
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Wolters Kluwer Medknow Publications,
2021-01-01T00:00:00Z.
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A1234.567 |
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