Literature DB >> 9916854

Lethal multiple pterygium syndrome in four male fetuses in a family: evidence for an X-linked recessive subtype?

J Meyer-Cohen, A Dillon, G S Pai, S Conradi.   

Abstract

Mesh：

Year:  1999        PMID： 9916854     DOI： 10.1002/(sici)1096-8628(19990101)82:1<97::aid-ajmg22>3.0.co;2-g

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


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  1 in total

1.  Case Report: Novel compound heterozygous variants in CHRNA1 gene leading to lethal multiple pterygium syndrome: A case report.

Authors:  Jianlong Zhuang; Junyu Wang; Qi Luo; Shuhong Zeng; Yu'e Chen; Yuying Jiang; Xinying Chen; Yuanbai Wang; Yingjun Xie; Gaoxiong Wang; Chunnuan Chen
Journal:  Front Genet       Date:  2022-08-26       Impact factor: 4.772
  1 in total

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