Literature DB >> 29057530

Comment on "Whole exome sequencing and array-based molecular karyotyping as aids to prenatal diagnosis in fetuses with suspected Simpson-Golabi-Behmel syndrome".

Christine Fauth1, Annick Toutain2.   

Abstract

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Year:  2017        PMID： 29057530     DOI： 10.1002/pd.5137

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


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  2 in total

1.  Identification of a Novel OFD1 Variant in a Patient with Primary Ciliary Dyskinesia.

Authors:  Binyi Yang; Cheng Lei; Danhui Yang; Chenyang Lu; Yingjie Xu; Lin Wang; Ting Guo; Rongchun Wang; Hong Luo
Journal:  Pharmgenomics Pers Med       Date:  2022-07-11

Review 2.  OFD1: One gene, several disorders.

Authors:  Nunziana Pezzella; Guglielmo Bove; Roberta Tammaro; Brunella Franco
Journal:  Am J Med Genet C Semin Med Genet       Date:  2022-02-02       Impact factor: 3.359
  2 in total

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