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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Main Authors: Sapna Sandal (Author), Varshini Shanker (Author), Swasti Pal (Author), Sunita Bijarnia-Mahay (Author)
Format: Book
Published: Wolters Kluwer Medknow Publications, 2021-01-01T00:00:00Z.
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3rd Floor Main Library

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Call Number: A1234.567
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