Literature DB >> 8807344

Three novel and two recurrent mutations of the Norrie disease gene in patients with Norrie syndrome.

S Fuchs1, D van de Pol, U Beudt, U Kellner, F Meire, W Berger, A Gal.   

Abstract

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Year:  1996        PMID： 8807344     DOI： 10.1002/(SICI)1098-1004(1996)8:1<85::AID-HUMU15>3.0.CO;2-N

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  2 in total

1.  Novel Pathogenic Variant in the Cys110 Residue: A Genotype-Phenotype Report of a Patient with Norrie Disease.

Authors:  Jaspreet Garcha; Angita Jain; Herjot Atwal; Pavalan Sevlam; Paldeep S Atwal
Journal:  J Pediatr Genet       Date:  2019-10-21

2.  Next-generation sequencing reveals a case of Norrie disease in a child with bilateral ocular malformation.

Authors:  Haijun Li; Zhiming Li; Degang Wang; Chuanming Chen; Zhiqiang Chen; Jinhua Wang; Chenxia Xu; Xingsheng Dong
Journal:  Front Genet       Date:  2022-08-12       Impact factor: 4.772
  2 in total

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