Literature DB >> 6439922

Borjeson-Forssman-Lehmann syndrome in a girl.

K Matsuo, I Murano, T Kajii.   

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Year:  1984        PMID： 6439922     DOI： 10.1007/BF01873532

Source DB:  PubMed          Journal:  Jinrui Idengaku Zasshi        ISSN： 0021-5074


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  2 in total

1.  Mutation screening in Borjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient.

Authors:  J Crawford; K M Lower; R C M Hennekam; H Van Esch; A Mégarbané; S A Lynch; G Turner; J Gécz
Journal:  J Med Genet       Date:  2005-07-01       Impact factor: 6.318

2.  A Novel Nonsense Mutation of PHF6 in a Female with Extended Phenotypes of Borjeson-Forssman-Lehmann Syndrome

Authors:  Xia Zhang; Yanjie Fan; Xiaomin Liu; Ming-Ang Zhu; Yu Sun; Hui Yan; Yunjuan He; Xiantao Ye; Xuefan Gu; Yongguo Yu
Journal:  J Clin Res Pediatr Endocrinol       Date:  2019-01-11
  2 in total

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