Literature DB >> 4691558

Blue sclerae and keratoconus: key features of a distinct heritable disorder of connective tissue.

G Greenfield, R Stein, A Romano, R M Goodman.   

Abstract

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Year:  1973        PMID: 4691558     DOI: 10.1111/j.1399-0004.1973.tb01115.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


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  6 in total

Review 1.  The impairment of lysyl oxidase in keratoconus and in keratoconus-associated disorders.

Authors:  Lubica Dudakova; Katerina Jirsova
Journal:  J Neural Transm (Vienna)       Date:  2013-02-20       Impact factor: 3.575

2.  Brittle cornea syndrome: an heritable connective tissue disorder distinct from Ehlers-Danlos syndrome type VI and fragilitas oculi, with spontaneous perforations of the eye, blue sclerae, red hair, and normal collagen lysyl hydroxylation.

Authors:  P M Royce; B Steinmann; A Vogel; U Steinhorst; A Kohlschuetter
Journal:  Eur J Pediatr       Date:  1990-04       Impact factor: 3.183

3.  [Syndrome of blue sclerae and keratoglobus (ocular type of Ehlers-Danlos syndrome (author's transl)].

Authors:  W Behrens-Baumann; H J Gebauer; U Langenbeck
Journal:  Albrecht Von Graefes Arch Klin Exp Ophthalmol       Date:  1977-12-31

4.  VSX1 and SOD1 Mutation Screening in Patients with Keratoconus in the South of Iran.

Authors:  Mahmood Nejabat; Payam Naghash; Hassan Dastsooz; Sanaz Mohammadi; Mohsen Alipour; Majid Fardaei
Journal:  J Ophthalmic Vis Res       Date:  2017 Apr-Jun

Review 5.  Genetic Aspects of Keratoconus: A Literature Review Exploring Potential Genetic Contributions and Possible Genetic Relationships with Comorbidities.

Authors:  Eleftherios Loukovitis; Konstantinos Sfakianakis; Panagiota Syrmakesi; Eleni Tsotridou; Myrsini Orfanidou; Dimitra Rafailia Bakaloudi; Maria Stoila; Athina Kozei; Spyridon Koronis; Zachos Zachariadis; Paris Tranos; Nikos Kozeis; Miltos Balidis; Zisis Gatzioufas; Aliki Fiska; George Anogeianakis
Journal:  Ophthalmol Ther       Date:  2018-09-06

Review 6.  Brittle cornea syndrome: a case report and review of the literature.

Authors:  Qi Wan; Jing Tang; Yu Han; Qibin Xiao; Yingping Deng
Journal:  BMC Ophthalmol       Date:  2018-09-18       Impact factor: 2.209

  6 in total

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