Article

Clinical Characteristics and Genetic Analysis of Birt-Hogg-Dubé Syndrome With Congenital Contractural Arachnodactyly in a Family

2021-09-07

Abstract excerpt

<title>Abstract</title> <p><bold>Background </bold>Birt-Hogg-Dubé Syndrome (BHD syndrome) and congenital contractural arachnodactyly (CCA) or Beals Hecht Syndrome (BHS) are clinically rare autosomal dominant genetic diseases. In this study, we find an extremely rare family with BHD Syndrome with CCA.<bold>Objective</bold> To investigate the clinical and genetic variation characteristics of a family with BHD Syndr...

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Literature Corpus work: bc35b2a9-7a7c-5229-9841-1a83611b59dc
DOI: 10.21203/rs.3.rs-855998/v1

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