Literature DB >> 30945433

Status dystonicus, hyperpyrexia, and acute kidney injury in a patient with SOX2-anophthalmia syndrome.

Edmundo Martinez1, Erik C Madsen1.   

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Year:  2019        PMID： 30945433     DOI： 10.1002/ajmg.a.61144

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


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  1 in total

1.  Review of 37 patients with SOX2 pathogenic variants collected by the Anophthalmia/Microphthalmia Clinical Registry and DNA research study.

Authors:  Louise Amlie-Wolf; Tanya Bardakjian; Sarina M Kopinsky; Linda M Reis; Elena V Semina; Adele Schneider
Journal:  Am J Med Genet A       Date:  2021-09-25       Impact factor: 2.578
  1 in total

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