Weill–Marchesani syndrome: A rare cause of ectopia lentis and short stature

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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Bibliographic Details
Main Authors: Sapna Sandal, Varshini Shanker, Swasti Pal, Sunita Bijarnia-Mahay
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2021-01-01
Series:Indian Pediatrics Case Reports
Subjects:
brachydactyly
ectopia lentis
short stature
Online Access:http://www.ipcares.org/article.asp?issn=2772-5170;year=2021;volume=1;issue=2;spage=117;epage=119;aulast=Sandal

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http://www.ipcares.org/article.asp?issn=2772-5170;year=2021;volume=1;issue=2;spage=117;epage=119;aulast=Sandal

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