Literature DB >> 26661836

Genetic Incidentaloma in Ophthalmology.

Priscilla Q Vu1, Jack J Tian2, Alfredo A Sadun3.   

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Year:  2016        PMID： 26661836     DOI： 10.1001/jamaophthalmol.2015.4679

Source DB:  PubMed          Journal:  JAMA Ophthalmol        ISSN： 2168-6165            Impact factor:   7.389


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  2 in total

1.  A recurrent, non-penetrant sequence variant, p.Arg266Cys in Growth/Differentiation Factor 3 (GDF3) in a female with unilateral anophthalmia and skeletal anomalies.

Authors:  Tanya Bardakjian; Max Krall; Di Wu; Richard Lao; Paul Ling-Fung Tang; Eunice Wan; Sarina Kopinsky; Adele Schneider; Pui-Yan Kwok; Anne Slavotinek
Journal:  Am J Ophthalmol Case Rep       Date:  2017-06-21

2.  Incidentalome in Neurogenetics: Pathogenic Variant of NSD1 in a Patient With Spinocerebellar Ataxia (SCA).

Authors:  Harvy Velasco; Diana Ramírez-Montaño
Journal:  Front Genet       Date:  2018-03-14       Impact factor: 4.599
  2 in total

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