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A novel variant in the ROR2 gene underlying brachydactyly type B: a case report

BACKGROUND: Brachydactyly type B is an autosomal dominant disorder that is characterized by hypoplasia of the distal phalanges and nails and can be divided into brachydactyly type B1 (BDB1) and brachydactyly type B2 (BDB2). BDB1 is the most severe form of brachydactyly and is caused by truncating va...

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Detalles Bibliográficos
Autores principales:	Shao, Jiaqi, Liu, Yue, Zhao, Shuyang, Sun, Weisheng, Zhan, Jie, Cao, Lihua
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2022
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9446770/ https://www.ncbi.nlm.nih.gov/pubmed/36064339 http://dx.doi.org/10.1186/s12887-022-03564-z

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