Literature DB >> 29120061

Osteopathia striata with cranial sclerosis and Wilms tumor: Coincidence or consequence?

F Sperotto1, G Bisogno1, E Opocher1, S Rossi2,3, C Rigon2,3, E Trevisson2,3, F Mercolini1.   

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Year:  2017        PMID： 29120061     DOI： 10.1111/cge.13082

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  3 in total

1.  Whole Exome Sequencing Provides the Correct Diagnosis in a Case of Osteopathia Striata with Cranial Sclerosis: Case Report of a Novel Frameshift Mutation in AMER1.

Authors:  José María García-Aznar; Noelia Ramírez; David De Uña; Elisa Santiago; Lorenzo Monserrat
Journal:  J Pediatr Genet       Date:  2020-04-21

2.  Novel WTX nonsense mutation in a family diagnosed with osteopathia striata with cranial sclerosis: Case report.

Authors:  Changhoon Jeong; Myungshin Kim; Jisook Yim; Il-Jung Park; Jiwon Lee; Jaeyoung Lee
Journal:  Medicine (Baltimore)       Date:  2021-10-08       Impact factor: 1.889

3.  Wilms tumor in patients with osteopathia striata with cranial sclerosis.

Authors:  Alicia Bach; Jingyi Mi; Matthew Hunter; Benjamin J Halliday; Sixto García-Miñaúr; Francesca Sperotto; Eva Trevisson; David Markie; Ian M Morison; Marwan Shinawi; Daniel N Willis; Stephen P Robertson
Journal:  Eur J Hum Genet       Date:  2020-09-02       Impact factor: 4.246
  3 in total

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