Xp11.3 microdeletion causing Norrie disease and X-linked Kabuki syndrome

Xp11.3 microdeletion causing Norrie disease and X-linked Kabuki syndrome

Purpose: To describe a novel case of Norrie disease and X-linked Kabuki syndrome caused by a microdeletion encompassing multiple genes on the X chromosome. Observations: A 3-day-old boy born at full term had bilateral retrolental fibrovascular plaques. Surgery with lensectomy and vitrectomy revealed...

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Bibliographic Details
Main Authors: Mahsaw Mansoor, Razek Georges Coussa, Margaret R. Strampe, Scott A. Larson, Jonathan F. Russell
Format: Article
Language:English
Published: Elsevier 2023-03-01
Series:American Journal of Ophthalmology Case Reports
Subjects:
Norrie disease
NDP
Norrin
KDM6A
Kabuki syndrome
Leukocoria
Online Access:http://www.sciencedirect.com/science/article/pii/S2451993623000063

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http://www.sciencedirect.com/science/article/pii/S2451993623000063

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