Literature DB >> 8002828

Flecked retina associated with café au lait spots, microcephaly, epilepsy, short stature, and ring 17 chromosome.

J D Gass, B S Taney.   

Abstract

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Year:  1994        PMID： 8002828     DOI： 10.1001/archopht.1994.01090180036013

Source DB:  PubMed          Journal:  Arch Ophthalmol        ISSN： 0003-9950


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  4 in total

1.  Benign Yellow Dot Maculopathy: A New Macular Phenotype.

Authors:  Arundhati Dev Borman; Aleksandra Rachitskaya; Martina Suzani; Robert A Sisk; Zubair M Ahmed; Graham E Holder; Valentina Cipriani; Gavin Arno; Andrew R Webster; Robert B Hufnagel; Audina Berrocal; Anthony T Moore
Journal:  Ophthalmology       Date:  2017-03-31       Impact factor: 12.079

2.  Ring Chromosome 17 Not Involving the Miller-Dieker Region: A Case with Drug-Resistant Epilepsy.

Authors:  Antonietta Coppola; Deborah Morrogh; Fiona Farrell; Simona Balestrini; Laura Hernandez-Hernandez; S Krithika; Josemir W Sander; Jonathan J Waters; Sanjay M Sisodiya
Journal:  Mol Syndromol       Date:  2017-09-15

Review 3.  The past, present, and future for constitutional ring chromosomes: A report of the international consortium for human ring chromosomes.

Authors:  Peining Li; Barbara Dupont; Qiping Hu; Marco Crimi; Yiping Shen; Igor Lebedev; Thomas Liehr
Journal:  HGG Adv       Date:  2022-09-10

4.  Retinal and optic nerve changes in microcephaly: An optical coherence tomography study.

Authors:  Eleni Papageorgiou; Anastasia Pilat; Frank Proudlock; Helena Lee; Ravi Purohit; Viral Sheth; Pradeep Vasudevan; Irene Gottlob
Journal:  Neurology       Date:  2018-07-11       Impact factor: 9.910
  4 in total

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