Literature DB >> 19340824

Platyspondylic lethal skeletal dysplasia San Diego type (thanatophoric dysplasia type 1) associated with trisomy 21 presenting with nuchal translucency: a case report.

Takahiro Yamada, Hideaki Sawai, Gen Nishimura, Hironao Numabe, Kazutoshi Cho, Hisanori Minakami.   

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Year:  2009        PMID： 19340824     DOI： 10.1002/pd.2268

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


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  2 in total

1.  Diagnosis of chromosomal abnormalities in a patient with thanatophoric dysplasia (TD) type I: The first report describing an important association between cytogenetic findings and TD.

Authors:  Mehmet Turgut; Osman Demirhan; Erdal Tunc; Ibrahim Hakan Bucak; Perihan Yasemen Canoz; Fatih Temiz; Gokhan Tumgor
Journal:  Am J Case Rep       Date:  2012-06-13

2.  A Case of Thanatophoric Dysplasia Type I with Fetal Hydrops in the First Trimester.

Authors:  Giannina Calongos; Masateru Hori; Mai Ogino; Hideaki Sawai
Journal:  Case Rep Obstet Gynecol       Date:  2016-02-23
  2 in total

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