Literature DB >> 28815901

A novel heterozygous mutation in FGFR2 gene causing Pfeiffer syndrome.

Renato A Machado1, Shirlene B Ferreira2, Luciane Martins3, Mariana M Ribeiro4, Daniella R B Martelli5, Ricardo D Coletta1, Marcos J B Aguiar6, Hercílio Martelli-Júnior5,7.   

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Year:  2017        PMID： 28815901     DOI： 10.1002/ajmg.a.38389

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  2 in total

1.  Prenatal Diagnosis of Pfeiffer Syndrome Patient with FGFR2 C.940-1G>C Variant: A Case Report.

Authors:  Laura Torres-Canchala; Daniela Castaño; Nathalia Silva; Ana María Gómez; Alejandro Victoria; Harry Pachajoa
Journal:  Appl Clin Genet       Date:  2020-08-11

2.  Adapting SureSelect enrichment protocol to the Ion Torrent S5 platform in molecular diagnostics of craniosynostosis.

Authors:  Ewelina Bukowska-Olech; Delfina Popiel; Grzegorz Koczyk; Anna Sowińska-Seidler; Magdalena Socha; Bartosz Wojciechowicz; Adam Dawidziuk; Dawid Larysz; Aleksander Jamsheer
Journal:  Sci Rep       Date:  2020-03-05       Impact factor: 4.379
  2 in total

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