Ophthalmic features of Lamb-Shaffer syndrome: a case series-Reference-Cited by-同舟云学术

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Ophthalmic features of Lamb-Shaffer syndrome: a case series

Published:2024-06 Issue:3 Volume:28 Page:103919
ISSN:1091-8531
Container-title:Journal of American Association for Pediatric Ophthalmology and Strabismus
language:en
Short-container-title:Journal of American Association for Pediatric Ophthalmology and Strabismus

Author:

Glidai Yoav^ORCID,Aung Moe H.,Edmond Jane,Lawrence Linda,Vicente G. Vike,Kodsi Sylvia R.

Publisher

Elsevier BV

Reference9 articles.

1. Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features;Lamb;Hum Mutat,2012

2. Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency;Zawerton;Genet Med,2020

3. Clinical spectrum and follow-up in six individuals with Lamb-Shaffer syndrome (SOX5);Innella;Am J Med Genet Part A,2021

4. Clinical and genetic characterization of a patient with SOX5 haploinsufficiency caused by a de novo balanced reciprocal translocation;Fukushi;Gene,2018

5. Ophthalmic manifestations of Lamb-Shaffer syndrome: a case presentation and literature review;Mahmud;J AAPOS,2022

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1. At a glance: catalogue of systemic associations of congenital lacrimal drainage anomalies;Orbit;2024-08-07

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