Literature DB >> 31759499

Concentric Macular Rings Sign in Chediak-Higashi Syndrome.

Prithvi Ramtohul1, Danièle Denis1.   

Abstract

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Year:  2019        PMID： 31759499     DOI： 10.1016/j.ophtha.2019.07.005

Source DB:  PubMed          Journal:  Ophthalmology        ISSN： 0161-6420            Impact factor:   12.079


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  1 in total

1.  SLC38A8 mutations result in arrested retinal development with loss of cone photoreceptor specialization.

Authors:  Helen J Kuht; Jinu Han; Gail D E Maconachie; Sung Eun Park; Seung-Tae Lee; Rebecca McLean; Viral Sheth; Michael Hisaund; Basu Dawar; Nicolas Sylvius; Usman Mahmood; Frank A Proudlock; Irene Gottlob; Hyun Taek Lim; Mervyn G Thomas
Journal:  Hum Mol Genet       Date:  2020-11-04       Impact factor: 6.150
  1 in total

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