Literature DB >> 35092638

Pernicious anemia associated with Kabuki syndrome.

Satoru Matsushima1, Keisuke Kato1, Ai Yoshimi1, Koh-Ichiro Yoshiura2, Masahiro Tsuchida1.   

Abstract

Entities:  

Keywords:  KMT2D gene mutation; Kabuki syndrome; autoimmune disorder; pernicious anemia

Mesh：

Year:  2022        PMID： 35092638     DOI： 10.1111/ped.14960

Source DB:  PubMed          Journal:  Pediatr Int        ISSN： 1328-8067            Impact factor:   1.524


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  1 in total

1.  Case report: A study on the de novo KMT2D variant of Kabuki syndrome with Goodpasture's syndrome by whole exome sequencing.

Authors:  Shuolin Li; Jing Liu; Yuan Yuan; Aizhen Lu; Fang Liu; Li Sun; Quanli Shen; Libo Wang
Journal:  Front Pediatr       Date:  2022-08-26       Impact factor: 3.569
  1 in total

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