一名患有巴德-比德尔综合征患者的莱-卡-佩病：一例新突变的病例报告。
Legg-Calvé-Perthes disease in a patient with Bardet-Biedl syndrome: A case report of a novel mutation.
作者信息
Mishima Kenichi, Fujita Atsushi, Mizuno Seiji, Matsushita Masaki, Nagata Tadashi, Kamiya Yasunari, Miyake Noriko, Matsumoto Naomichi, Imagama Shiro, Kitoh Hiroshi
机构信息
Department of Orthopaedic Surgery Nagoya University Graduate School of Medicine Nagoya Japan.
Department of Human Genetics Yokohama City University Graduate School of Medicine Yokohama Japan.
出版信息
Clin Case Rep. 2020 Sep 21;8(12):3110-3115. doi: 10.1002/ccr3.3357. eCollection 2020 Dec.
This article reports a girl with Bardet-Biedl syndrome (BBS) having a novel causative mutation who developed Legg-Calvé-Perthes disease (LCPD). There exists a possibility that the prognosis of LCPD had been adversely affected by the concomitant BBS.
本文报道了一名患有巴德-比德尔综合征（BBS）且携带一种新型致病突变的女孩，她患上了莱-卡-佩病（LCPD）。LCPD的预后有可能受到并发的BBS的不利影响。
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