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

Autor:	Atsushi Fujita, Masaki Matsushita, Shiro Imagama, Noriko Miyake, Tadashi Nagata, Hiroshi Kitoh, Yasunari Kamiya, Seiji Mizuno, Kenichi Mishima, Naomichi Matsumoto
Jazyk:	angličtina
Rok vydání:	2020
Předmět:	Medicine (General) Pediatrics medicine.medical_specialty congenital hereditary and neonatal diseases and abnormalities osteochondrosis Case Report Disease Case Reports 030204 cardiovascular system & hematology MKKS 03 medical and health sciences R5-920 0302 clinical medicine Bardet–Biedl syndrome medicine Legg-Calve-Perthes disease MKKS/BBS6 gene business.industry surgical containment Legg‐Calvé‐Perthes disease General Medicine medicine.disease nervous system diseases 030220 oncology & carcinogenesis Mutation (genetic algorithm) Osteochondrosis Bardet‐Biedl syndrome Medicine business
Zdroj:	Clinical Case Reports Clinical Case Reports, Vol 8, Iss 12, Pp 3109-3114 (2020)
ISSN:	2050-0904
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3833fa19e96b85597974e24a23983b4 http://europepmc.org/articles/PMC7752338 Zobrazit plný text záznamu Plný text ve formátu PDF Plný text ve formátu HTML
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