Legg‐Calvé‐Perthes disease in a patient with Bardet‐Biedl syndrome: A case report of a novel MKKS/BBS6 mutation

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.

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Detaylı Bibliyografya
Yayımlandı:Clin Case Rep
Asıl Yazarlar: Mishima, Kenichi, Fujita, Atsushi, Mizuno, Seiji, Matsushita, Masaki, Nagata, Tadashi, Kamiya, Yasunari, Miyake, Noriko, Matsumoto, Naomichi, Imagama, Shiro, Kitoh, Hiroshi
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: John Wiley and Sons Inc. 2020
Konular:
Case Reports
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC7752338/
https://ncbi.nlm.nih.gov/pubmed/33363891
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.3357
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