Literature DB >> 25284440

Prenatal diagnosis of osteopathia striata with cranial sclerosis.

Alexandre Vasiljevic1, Caroline Azzi, Audrey Lacalm, Daniele Combourieu, Sophie Collardeau-Frachon, Frédérique Dijoud, Jerôme Massardier, Wim Van Hul, Caroline Fromageoux, Laurent Guibaud, Pascal Gaucherand, Marie-Pierre Cordier, Mona Massoud.   

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Year:  2014        PMID： 25284440     DOI： 10.1002/pd.4513

Source DB:  PubMed          Journal:  Prenat Diagn        ISSN： 0197-3851            Impact factor:   3.050


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  2 in total

1.  Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development.

Authors:  Carin L Yates; Kristin G Monaghan; Deborah Copenheaver; Kyle Retterer; Julie Scuffins; Cathlin R Kucera; Bethany Friedman; Gabriele Richard; Jane Juusola
Journal:  Genet Med       Date:  2017-04-20       Impact factor: 8.822

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
  2 in total

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