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A 3.06-Mb interstitial deletion on 12p11.22-12.1 caused brachydactyly type E combined with pectus carinatum

BACKGROUND: Brachydactyly, a developmental disorder, refers to shortening of hands/feet due to small or missing metacarpals/metatarsals and/or phalanges. Isolated brachydactyly type E (BDE), characterized by shortened metacarpals and/or metatarsals, consists in a small proportion of patients with Ho...

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Detalles Bibliográficos
Autores principales:	Huang, Jia, Liu, Hong-Yan, Wang, Rong-Rong, Xiao, Hai, Wu, Dong, Li, Tao, Jiang, Ying-Hai, Zhang, Xue
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer Health 2019
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6759105/ https://www.ncbi.nlm.nih.gov/pubmed/31283647 http://dx.doi.org/10.1097/CM9.0000000000000327

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