Literature DB >> 16470687

Spondylo-ocular syndrome: a new entity involving the eye and spine.

Yasemin Alanay1, Andrea Superti-Furga, Fatih Karel, Ergül Tunçbilek.   

Abstract

Entities:  

Mesh：

Year:  2006        PMID： 16470687     DOI： 10.1002/ajmg.a.31119

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  3 in total

1.  Homozygosity for frameshift mutations in XYLT2 result in a spondylo-ocular syndrome with bone fragility, cataracts, and hearing defects.

Authors:  Craig F Munns; Somayyeh Fahiminiya; Nabin Poudel; Maria Cristina Munteanu; Jacek Majewski; David O Sillence; Jordan P Metcalf; Andrew Biggin; Francis Glorieux; François Fassier; Frank Rauch; Myron E Hinsdale
Journal:  Am J Hum Genet       Date:  2015-05-28       Impact factor: 11.025

2.  Spondyloocular Syndrome: A Novel XYLT2 Variant with Description of the Neonatal Phenotype.

Authors:  Gabriella Doddato; Alessandra Fabbiani; Chiara Fallerini; Mirella Bruttini; Theodora Hadjistilianou; Martino Landi; Caterina Coradeschi; Salvatore Grosso; Barbara Tomasini; Maria Antonietta Mencarelli; Alessandra Renieri; Francesca Ariani
Journal:  Front Genet       Date:  2021-12-03       Impact factor: 4.599

Review 3.  Ehlers-Danlos syndromes and their manifestations in the visual system.

Authors:  Samuel Asanad; May Bayomi; Douglas Brown; Joshua Buzzard; Eric Lai; Carlthan Ling; Trisha Miglani; Taariq Mohammed; Joby Tsai; Olivia Uddin; Eric Singman
Journal:  Front Med (Lausanne)       Date:  2022-09-27
  3 in total

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