Stickler Syndrome
What's New
Last Posted: Jan 27, 2024
- Clinical and genetic risk factors underlying severe consequence identified in 75 families with unilateral high myopia.
Yi Jiang, et al. Journal of translational medicine 2024 0 (1) 75 - LEPREL1 -RELATED GIANT RETINAL TEAR DETACHMENTS MIMIC THE PHENOTYPE OF OCULAR STICKLER SYNDROME.
Magliyah Moustafa S, et al. Retina (Philadelphia, Pa.) 2023 0 (3) 498-505 - Mutation survey in Taiwanese patients with Stickler syndrome.
Huang Faye, et al. Taiwan journal of ophthalmology 2023 0 (4) 423-429 - Stickler syndrome in children: a radiological review.
McArthur N, et al. Clinical radiology 2018 0 (7) 678.e13-678.e18 - Electroretinograms of eyes with Stickler syndrome.
Kondo Hiroyuki, et al. Documenta ophthalmologica. Advances in ophthalmology 2019 0 (3) 233-243 - Comprehensive analysis of syndromic hearing loss patients in Japan.
Ideura Michie, et al. Scientific reports 2019 0 (1) 11976 - High Myopia and Strabismus Induced by a Deep Intronic Mutation in COL2A1.
Rossenwasser-Weiss Shirel, et al. Current eye research 2020 0 (7) 1051-1055 - Mutation Spectrum and De Novo Mutation Analysis in Stickler Syndrome Patients with High Myopia or Retinal Detachment.
Huang Li, et al. Genes 2020 0 (8) - Genetic Characteristics and Phenotype of Korean Patients with Stickler Syndrome: A Korean Multicenter Analysis Report No. 1.
Choi Soon-Il, et al. Genes 2021 0 (10) - Auditory function associated with Col11a1 haploinsufficiency in chondrodysplasia (cho) mice.
Szymko-Bennett Yvonne M, et al. Hearing research 2003 0 (1-2) 178-82
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- Alpha-1 Antitrypsin Deficiency
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Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
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