Literature DB >> 1481835

Waardenburg syndrome type I in a child with deletion (2) (q35q36.2)

S J Kirkpatrick, C M Kent, R Laxova, G S Sekhon.   

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Year:  1992        PMID： 1481835     DOI： 10.1002/ajmg.1320440533

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


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  1 in total

1.  EPHA4 haploinsufficiency is responsible for the short stature of a patient with 2q35-q36.2 deletion and Waardenburg syndrome.

Authors:  Chuan Li; Rongyu Chen; Xin Fan; Jingsi Luo; Jiale Qian; Jin Wang; Bobo Xie; Yiping Shen; Shaoke Chen
Journal:  BMC Med Genet       Date:  2015-04-11       Impact factor: 2.103
  1 in total

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