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

Background: Birt-Hogg-Dubé (BHD) syndrome and congenital contractural arachnodactyly (CCA) or Beals-Hecht syndrome are clinically rare autosomal dominant genetic diseases. In this study, we describe an extremely rare family with BHD syndrome and CCA. Objective: To investigate the clinical and geneti...

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Detalles Bibliográficos
Autores principales: Qiu, Jiayong, Lou, Yao, Zhu, Yingwei, Wang, Min, Peng, Huifang, Hao, Yingying, Jiang, Hongwei, Mao, Yimin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8807514/
https://www.ncbi.nlm.nih.gov/pubmed/35126451
http://dx.doi.org/10.3389/fgene.2021.768342

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8807514/
https://www.ncbi.nlm.nih.gov/pubmed/35126451
http://dx.doi.org/10.3389/fgene.2021.768342

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