复合杂合度
医学
生物
遗传学
表型
免疫学
癌症研究
基因
作者
Luciana Martins de Carvalho,Gonza Ngoumou,Ji Woo Park,Nadja Ehmke,Nikolaus Deigendesch,Naoki Kitabayashi,Isabelle Melki,Flávio Falcão Lima de Souza,Andreas Tzschach,Marcello Henrique Nogueira‐Barbosa,Virgínia Paes Leme Ferriani,Paulo Louzada‐Júnior,Wilson Marques,Charles Marques Lourenço,Denise Horn,Tilmann Kallinich,Werner Stenzel,Sun Hur,Gillian Rice,Yanick J. Crow
摘要
To define the molecular basis of a multisystem phenotype with progressive musculoskeletal disease of the hands and feet, including camptodactyly, subluxation, and tendon rupture, reminiscent of Jaccoud's arthropathy.
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