Literature DB >> 28471317

A de novo PUF60 mutation in a child with a syndromic form of coloboma and persistent fetal vasculature.

Claudio Graziano1, Elena Gusson2, Giulia Severi1, Federica Isidori1, Anita Wischmeijer3, Milena Brugnara4, Marco Seri1, Cesare Rossi1.   

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Year:  2017        PMID： 28471317     DOI： 10.1080/13816810.2017.1318927

Source DB:  PubMed          Journal:  Ophthalmic Genet        ISSN： 1381-6810            Impact factor:   1.803


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  3 in total

Review 1.  Genetics of syndromic ocular coloboma: CHARGE and COACH syndromes.

Authors:  Aman George; Tiziana Cogliati; Brian P Brooks
Journal:  Exp Eye Res       Date:  2020-02-04       Impact factor: 3.467

2.  Whole Exome Sequencing in Coloboma/Microphthalmia: Identification of Novel and Recurrent Variants in Seven Genes.

Authors:  Patricia Haug; Samuel Koller; Jordi Maggi; Elena Lang; Silke Feil; Agnès Wlodarczyk; Luzy Bähr; Katharina Steindl; Marianne Rohrbach; Christina Gerth-Kahlert; Wolfgang Berger
Journal:  Genes (Basel)       Date:  2021-01-06       Impact factor: 4.096

3.  Role of PUF60 gene in Verheij syndrome: a case report of the first Chinese Han patient with a de novo pathogenic variant and review of the literature.

Authors:  Qiong Xu; Chun-Yang Li; Yi Wang; Hui-Ping Li; Bing-Bing Wu; Yong-Hui Jiang; Xiu Xu
Journal:  BMC Med Genomics       Date:  2018-10-23       Impact factor: 3.063
  3 in total

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