Literature DB >> 537034

The Börjeson-Forssman-Lehmann syndrome: a new case.

R M Veall, E M Brett, T M Rivinus, R Stephens.   

Abstract

A new case of the Borjeson-Forssman-Lehmann syndrome is described with details of anthropometry, dermatoglyphs, endocrine function studies and mental state. Comparisons are made with the five previously reported cases. The diagnosis is based on the clinical appearance. Endocrine studies gave normal results and the patient's short stature is not due to growth hormone deficiency. There is no evidence for primary hypogonadism.

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Year:  1979        PMID: 537034     DOI: 10.1111/j.1365-2788.1979.tb00858.x

Source DB:  PubMed          Journal:  J Ment Defic Res        ISSN: 0022-264X


  1 in total

1.  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
  1 in total

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