Literature DB >> 8790109

Rieger anomaly and congenital glaucoma in the SHORT syndrome.

M C Brodsky, J Whiteside-Michel, L M Merin.   

Abstract

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Mesh：

Year:  1996        PMID： 8790109     DOI： 10.1001/archopht.1996.01100140348022

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


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  4 in total

1.  Mutations in PIK3R1 cause SHORT syndrome.

Authors:  David A Dyment; Amanda C Smith; Diana Alcantara; Jeremy A Schwartzentruber; Lina Basel-Vanagaite; Cynthia J Curry; I Karen Temple; William Reardon; Sahar Mansour; Mushfequr R Haq; Rodney Gilbert; Ordan J Lehmann; Megan R Vanstone; Chandree L Beaulieu; Jacek Majewski; Dennis E Bulman; Mark O'Driscoll; Kym M Boycott; A Micheil Innes
Journal:  Am J Hum Genet       Date:  2013-06-27       Impact factor: 11.025

Review 2.  SHORT syndrome in a two-year-old girl - case report.

Authors:  Maria Klatka; Izabela Rysz; Katarzyna Kozyra; Agnieszka Polak; Witold Kołłątaj
Journal:  Ital J Pediatr       Date:  2017-05-04       Impact factor: 2.638

3.  A novel PIK3R1 mutation of SHORT syndrome in a Chinese female with diffuse thyroid disease: a case report and review of literature.

Authors:  Liying Sun; Qianwen Zhang; Qun Li; Yijun Tang; Yirou Wang; Xin Li; Niu Li; Jian Wang; Xiumin Wang
Journal:  BMC Med Genet       Date:  2020-10-31       Impact factor: 2.103

Review 4.  Glaucoma Syndromes: Insights into Glaucoma Genetics and Pathogenesis from Monogenic Syndromic Disorders.

Authors:  Daniel A Balikov; Adam Jacobson; Lev Prasov
Journal:  Genes (Basel)       Date:  2021-09-11       Impact factor: 4.096
  4 in total

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