Literature DB >> 8484406

New lethal syndrome of fetal akinesia with characteristic facial appearance, severe microphthalmia, microtia, and truncus arteriosus in two male sibs.

I T Thomas1, T Jewett, K H Raines, C Gash, P Garber.   

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Year:  1993        PMID： 8484406     DOI： 10.1002/ajmg.1320460216

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


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  1 in total

1.  Conotruncal heart defect/microphthalmia syndrome: delineation of an autosomal recessive syndrome.

Authors:  M C Digilio; B Marino; A Giannotti; B Dallapiccola
Journal:  J Med Genet       Date:  1997-11       Impact factor: 6.318
  1 in total

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