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Documenta Ophthalmologica, ISSN 0012-4486, 6/2018, Volume 136, Issue 3, pp. 199 - 206
Journal Article
British Journal of Ophthalmology, ISSN 0007-1161, 02/2012, Volume 96, Issue 2, pp. 213 - 217
Journal Article
Investigative Ophthalmology & Visual Science, ISSN 0146-0404, 07/2002, Volume 43, Issue 7, pp. 2213 - 2220
Journal Article
JAMA Ophthalmology, ISSN 2168-6165, 07/2016, Volume 134, Issue 7, p. 753
  Knobloch syndrome is a rare, recessively inherited disorder classically characterized by high myopia, retinal detachment, and occipital encephalocele, but it... 
Genotype & phenotype | Data analysis | Genetic disorders | Eye diseases | Genetics
Journal Article
JAMA Ophthalmology, ISSN 2168-6165, 09/2016, Volume 134, Issue 9, p. 1049
  Importance: A multiorgan syndromic disorder characterized by sideroblastic anemia, immunodeficiency, periodic fever, and developmental delay with an... 
Cataracts | Genotype & phenotype | Eye diseases | Mutation | Ophthalmology
Journal Article
JAMA Ophthalmology, ISSN 2168-6165, 11/2014, Volume 132, Issue 11, p. 1341
  Enhanced S-cone syndrome (ESCS) forms part of the differential diagnosis of night blindness in childhood. To report in detail the clinical phenotype and... 
Genetic disorders | Pigments | Tomography | Eye diseases | Retina | Children & youth
Journal Article