Ophthalmic manifestations of Lamb-Shaffer syndrome: a case presentation and literature review-Reference-Cited by-同舟云学术

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Ophthalmic manifestations of Lamb-Shaffer syndrome: a case presentation and literature review

Published:2022-09 Issue: Volume: Page:
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:

Mahmud Haseeb^ORCID,Gustainis Deividas,Jackson-Cook Colleen,Couser Natario^ORCID

Publisher

Elsevier BV

Subject

Ophthalmology,Pediatrics, Perinatology and Child Health

Reference10 articles.

1. Cloning and characterization of SOX5, a new member of the human SOX gene family;Wunderle;Genomics,1996

2. 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

3. SoxD proteins influence multiple stages of oligodendrocyte development and modulate SoxE protein function;Stolt;Dev Cell,2006

4. Haploinsufficiency of SOX5, a member of the SOX (SRY-related HMG-box) family of transcription factors is a cause of intellectual disability;Schanze;Eur J Med Genet,2013

5. Deletion 12p12 involving SOX5 in two children with developmental delay and dysmorphic features;Lee;Pediatr Neurol,2013

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Clinical cases series and pathogenesis of Lamb-Shaffer syndrome in China;Orphanet Journal of Rare Diseases;2024-07-29

2. Ophthalmic features of Lamb-Shaffer syndrome: a case series;Journal of American Association for Pediatric Ophthalmology and Strabismus;2024-06

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